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Retinitis pigmentosa IkhtisarRoberta Pagon A, MD
Stephen P Daiger, PhD
karakteristik penyakit.
Retinitis pigmentosa (RP) adalah sekelompok kelainan bawaan di mana kelainan dari fotoreseptor (batang dan
kerucut) atau epitel pigmen retina (RPE) dari retina menyebabkan kehilangan penglihatan yang
progresif.Terkenaindividu cacat pertama adaptasi gelap pengalaman atau "malam kebutaan," diikuti dengan
penyempitan bidang visual perifer dan, akhirnya, kehilangan penglihatan sentral di akhir perjalanan penyakit.
Diagnosis / pengujian. Diagnosis RP bergantung pada dokumentasi kerugian progresif dalam fungsi
fotoreseptor oleh elektroretinografi (ERG) dan uji lapangan visual. Themode warisanRP ditentukan
olehsejarah keluarga. Setidaknya 35 berbedagenatau lokus diketahui menyebabkan nonsyndromic
RP.DNAtes tersedia secara klinis untukRLBP1 (resesif autosomal, Bothnia tipe RP),Rp1 (autosomal
dominan, Rp1),Rho(dominan autosomal, Rp4),RDS (autosomal dominan, Rp7), PRPF8 (autosomal
dominan, Rp13), PRPF3(autosomal dominan, RP 18), CRB1 (resesif autosomal, Rp12),ABCA4 (resesif
autosomal, Rp19), danRPE65 (resesif autosomal, Rp20). Untuk semua yang laingen,pengujian genetika
molekulartersedia secara penelitian saja.
Manajemen.
Terapi dengan vitamin A palmitat dapat memperlambat degenerasi retina tetapi tidak dianjurkan bagi mereka d
bawah usia 18 tahun dan harus diawasi secara rutin pada wanita usia subur karena efek teratogenik
potensial. Penggunaan UV-A dan B memblokir kacamata hitam-UV dianjurkan. Terapi Diamox dapa
mengurangi edema makula cystoid. CPF 550 lensa dapat meningkatkan kenyamanan mata dengan mengurangi
silau dan waktu adaptasi dari terang ke gelap. Berbagai alat bantu optik lainnya termasuk bantu,-televisi sirkui
tertutup, dan intensitas tinggi,-beam senter luas.
Konseling genetik. RP dapat diwariskan dalamautosomal dominan,resesif autosomatau X-linked cara,. -
Linked RP X dapat beruparesesif, mempengaruhi laki-laki saja, ataudominan, mempengaruhi baik pria
maupun wanita, perempuan selalu lebih sedikitterpengaruh. Beberapa dan bentuk mitokondria digenic juga
telah dijelaskan.konseling genetiktergantung pada diagnosis yang akurat, penentuancara warisandalam
keluarga masing-masing, dan hasiluji genetika molekular.
DefinisiManifestasi Klinis
RP merujuk kepada sekelompok kelainan bawaan di mana kelainan dari fotoreseptor (batang dan kerucut) dar
retina menyebabkan kehilangan penglihatan yang progresif.
Dalam RP, hilangnya fungsi batang mendominasi di awal perjalanan klinis. Gejala awal RP biasanya adaptasi
gelap cacat atau "buta malam." Jika individu dengan RP tidak rela sejarah adaptasi gelap yang salah, pertanyaan
rinci tentang kegiatan di senja atau dengan pencahayaan minim sering memunculkan seperti sejarah yang
dimulai di masa kanak-kanak atau remaja. Secara umum, semakin dini usia timbulnya adaptasi gelap cacat
yang jalannya lebih parah RP. Meskipun kehilangan visi perifer pertengahan terjadi pada awal penyakit, jarang
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diakui olehyang terkena dampakindividu dan biasanya bukan merupakan gejala menyajikan.terkenaindividu
dapat dianggap "kikuk" sebelum penyempitan bidang visual (misalnya, "tunnel vision") adalah terdeteksi.
Terlepas dari kenyataan bahwa tes sensitif fungsi kerucut dapat dokumen keterlibatan kerucut awal
pusatketajaman visual biasanya diawetkan hingga tahap akhir RP. Kehilangan ketajaman visual pusat dari
waktu ke waktu berkorelasi dengan kehadiran lesi makula awal dalam kegiatan [ Flynn et al 2001]. Umumnya
kehilangan ketajaman pusat disebabkan oleh atrofi makula di RP maju atau kurang umum dari edema makula
cystoid, yang terjadi pada beberapa individu pada tahap awal RP. Beberapa penyelidik telah menemukan
korelasi umum antara terkait visual ketajaman-umur dan subtipe genetik.Fishman(1978b) menemukan bahwa
individu dengandominan autosomalRP memiliki prognosis yang terbaik, dengan mayoritas dari mereka lebih
muda dari usia 30 tahun memiliki ketajaman visual 20 / 30 atau lebih baik. Laki-laki dengan X-linked RP
memiliki prognosis terburuk, dengan semua individu yang lebih tua dari usia 50 tahun memiliki ketajaman
visual lebih rendah dari 20/200. Individu denganautosomal resesifsimplex RP dan (yaitu, kejadian tunggal
dalam keluarga) yang menengah di tingkat keparahan. Lain tidak menemukan hubungan antara gangguan
penglihatan pusat dan subtipe genetik.
Para penampilan fundus di RP biasanya tergantung pada tahap degenerasi retina. Pada tahap awal ketika
elektroretinografi mengungkapkan tanggapan batang cacat pada orang yang mungkin belum menghargai gejala,fundus biasanya muncul normal. Istilah ini retinitis pigmentosapigmento sinus telah digunakan untuk merujuk
kepada penampilan normal retina meskipun kelainan fungsi photoreceptor didokumentasikan. Perubahan yang
diamati paling awal di fundus adalah penyempitan arteriol, seperti intraretinal pigmentasi debu halus, dan
hilangnya pigmen dari epitel pigmen. Seperti kerusakan fotoreseptor berlangsung, terjadi peningkatan hilangnya
pigmen dari epitel pigmen dengan intraretinal menggumpal melanin, muncul paling sering sebagai rumpun
kasar pada tulang spicule "konfigurasi". Retina kapal atenuasi dan pucat lilin pada saraf optik menjadi jelas
pada individu dengan RP maju. Penyebab kapal redaman retina tidak diketahui, tetapi tampaknya menjadi suatu
perubahan sekunder dan bukan proses penyakit primer.
subcapsular katarak posterior ditandai oleh perubahan kristal kekuningan di sumbu visual korteks lensaperifer yang umum dalam segala bentuk RP. Keparahan katarak berkorelasi dengan umuryang terkena
dampakindividu. Penyebab pembentukan katarak di RP tidak diketahui.
-Seperti partikel debu di vitreous hadir dalam sebagian besar individu dengan RP. Ini adalah halus, partikel
tidak berwarna yang terdiri dari butiran pigmen melanin gratis, epitel pigmen, melanosit uveal, dan-seperti sel
makrofag, yang merata di seluruh vitreous. Pengamatan partikel-partikel ini dapat membantu dalam diagnosis
RP dini sebelum perubahan fundus yang jelas.
Putih titik jauh di dalam retina pada tingkat epitel pigmen diyakini merupakan manifestasi nonspesifik
degenerasi epitel pigmen dan dapat menjelaskan penampilan retina disebut "retinitis albescens punctata," yang
dianggap sebagai manifestasi dari RP.
badan hialin (drusen) dari kepala saraf optik yang umum dan tidak ada atau diagnosa secara klinis.
Sebuah kejadian langka pada individu dengan RP maju vasculopathy eksudatifberhubungan dengan pembuluh
telangiectatic, detasemen retina serosa, dan deposisi lemak di retina. Penyebab vasculopathy eksudatif di RP
tidak diketahui.
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Sektor RP adalah istilah yang digunakan untuk menjelaskan perubahan-perubahan dalam satu kuadran atau
separuh dari setiap fundus. Paling umum, kuadran inferonasal yang simetris terlibat. Cacat bidang visual kurang
parah dibandingkan dengan RP khas dan sesuai dengan retina abnormal ophthalmoscopically. Individu dengan
sektor gejala biasanya RP kurangnya adaptasi gelap yang cacat, meskipun kelainan luas batang dan fungsi
kerucut biasanya terdeteksi oleh ERG. Informasi tentang sejarah alam sektor RP adalah bertentangan.perubahan
sektoral telah diamati dalamdominan autosomalRP dan pada wanita heterozigot untuk RP X-linked.Insiden
sektor RP rendah, baik karena hal ini jarang terjadi atau karena mengakibatkan gejala ringan dalam diagnosis
jarang.
Membangun Diagnosis yang
Konferensi konsensus [Marmor et al 1983] menyarankan bahwa diagnosis RP adalah didirikan ketika berikut
ini:
Rod disfungsi sebagaimana diukur dengan Dark adaptasi (batang ambang batas ditinggikan akhir)
ATAU
Electroretinogram (ERG) (tanggapan batang nondetectable, atau tanggapan batang denganamplitudo berkurang dan waktu implisit lama atau nondetectable)
Progresif kehilangan fungsi fotoreseptor Kehilangan penglihatan tepi Bilateral keterlibatan
Retina dinilai melalui 1) oftalmoskopi termasuk, jika diperlukan, angiografi fluorescein; 2) Penilaian fungsional
visi (misalnya, bidang visual, ketajaman visual, dan visi warna), dan 3) uji elektropsikologi (elektroretinografi).
Oftalmoskopi dari retina pada individu dengan RP maju dicirikan oleh adanya gumpalan intraretinal pigmen
hitam, nyata dilemahkan pembuluh retina, hilangnya epitel pigmen retina (RPE), dan pucat pada saraf
optik.Perubahan ini mencerminkan degenerasi retina berlangsung lama dan tidak perlu hadir untuk membuatdiagnosis RP. Temuan fundus Namun, instrumental dalam membedakan RP dari dystrophies retina lain yang
memiliki gejala klinis yang sama tapi perubahan retina khas.
Fungsional penilaian visi:
Visual uji lapangan, pemetaan obyek uji dirasakan secara subyektif, yang elips cahaya ukuranbervariasi dari 1 / 16 mm sampai 64 mm, diproyeksikan di atas latar belakang diterangi
seragam.Gejala adaptasi gelap cacat pada individu dengan RP disertai dengan pembatasan bidang
visual perifer.Dalam RP awal, cincin scotoma (blind spot) hadir di pinggiran-tengah bidang visual ~
20-25 dari fiksasi. Sebagai RP berlangsung, tepi luar cincin mengembang cukup cepat ke pinggiran,
sedangkan dalam kontrak marjin pelan menuju pusat lapangan (memproduksi "tunnel vision"). Lama
setelah seluruh bidang perifer hilang, oval kecil lapangan sentral biasanya tetap utuh. Individu dengan
RP mungkin memenuhi syarat secara hukum buta dengan kriteria bidang visual sebelum visus turun ke
tingkat yang ditetapkan untuk kebutaan hukum (20/200). Oleh karena itu, pengujian bidang visual
tidak hanya berguna untuk diagnosis, tetapi juga untuk mendirikan kebutaan hukum.
Visual ketajaman (VA), diukur dalam usia individu lima tahun dan lebih tua menggunakan grafikSnellen, untuk penilaian penglihatan jarak (di 20 ') dan makula (pusat) visi
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Warna visi, yang dapat dinilai secara subyektif olehterpengaruhindividu atau dengan tes obyektifElektroretinografi (ERG) obyektif menentukan status fungsional dari fotoreseptor. ERG mengukur potensi
listrik yang muncul di retina setelah rangsangan cahaya dan merupakan respon gabungan jutaan sel
retina.Pengukuran ini dibuat dengan lensa kontak dua elektrode yang ditempatkan pada kornea, output yang
diperkuat dan ditampilkan secara elektronik. Tanggapan diperoleh berdasarkan-disesuaikan kondisi gelap
umumnya mencerminkan fungsi batang, dan tanggapan diperoleh di bawah sinar-kondisi diadaptasi umumnya
mencerminkan fungsi kerucut. Rod tanggapan dapat dipisahkan dari tanggapan kerucut, yang memungkinkan
definisi jenis dan cakupan batang dan / atau keterlibatan kerucut. dan penurunan berat awal tanggapan batang
murni terjadi di RP dan sangat penting untuk diagnosis RP pada individu muda. Individu dengan RP maju
memiliki batang nondetectable dan tanggapan kerucut.
Diferensial Diagnosis
Perlu dicatat bahwa orang yang hadir dengan gejala awal photopsia (sensasi kilatan cahaya), penglihatan sentral
abnormal, penglihatan warna normal, atau ditandai asimetri pada keterlibatan okular mungkin tidak memiliki
RP, tetapi yang lain atau penyakit degenerasi retina retina. Beberapa gangguan yang perlu dipertimbangkan
dalam diagnosis diferensial RP khas:
Usher syndrome. Ketiga jenis sindrom Usher yang diwariskan dalamautosomalresesifcara. Individu dengantipe sindrom Usher 1memilikibawaan, mendalam, gangguan
pendengaran sensorineural bilateral dan tidak ada pidato dimengerti. Semuaterkena dampakindividu
memiliki kelainan fungsi saraf vestibular terdeteksi pada tes kalori dan terkait ringan, ataksia non-
progresif. Gejala RP khas biasanya dicatat pada anak terlambat remaja awal dan progresif
lambat. Individu dengantipe sindrom Usher 2memiliki ringan-untuk-mendalambawaangangguan
pendengaran sensorineural, tanggapan vestibular normal, dan akhir-remaja-untuk-muda-dewasa-onset
RP. Individu dengan tipe sindrom Usher 3 memiliki gangguan pendengaran sensorineural bilateralprogresif dan RP.
Berkisar atrofi dari koroid dan retina, sebuahresesif autosomalgangguan, dapat dibedakan dari RPoleh penampilan fundus dan dengan tes laboratorium yang sesuai. Pada awal penyakit, dibatasi, bercak
bulat diskrit dan atrofi retina Choroidal terjadi di midperiphery tersebut. Sebagai penyakit berlangsung
daerah-daerah bergabung untuk membentuk didefinisikan, cacat bergigi tajam dari epitel pigmen dan
koroid yang istilah "berkisar" telah ditetapkan. Sepuluh kali lipat untuk elevasi 20 dari ornithine
konsentrasi plasma disebabkan oleh kekurangan dari aminotransferase ketoacid ornithine-enzim, yang
dapat diuji dalam fibroblas kulit.
Choroideremia , sebuah gangguan X-linked, dapat dibedakan dengan penampilan fundus. Tahap awalterdiri dari pigmen halus stippling dan atrofi kutub posterior dan pertengahan pinggiran fundus. Pada
stadium lanjut, epitel pigmen retina merata dan Choroidal atrofi muncul di midperiphery dan secara
bertahap menyatu menjadi daerah konfluen kuning pucat.
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Cone-batang distrofi, kadang-kadang disebut atau pusat RP invers, ditandai oleh dan simetrisbilateral hilangnya fungsi kerucut di hadapan fungsi batang berkurang. Seperti RP istilah, istilah
"kerucut-rod distrofi" mengacu kepada sekelompok gangguan. Di-batang dystrophies kerucut,
kehilangan ketajaman visual pusat, photoaversion, dan cacat penglihatan warna muncul sebelum rugi
visual perifer dan adaptasi gelap cacat. Cone-batang dystrophies cenderung memiliki onset
dini.Perubahan fundus mungkin mirip dengan yang RP. Cone-batang dystrophies sering sindromik;
contoh termasuksindrom Alstrom,-Beidl sindrom Bardet, danlipofuscinoses ceroid saraf.
bawaan amaurosis Leber (LCA), sebuah distrofi parah retina, biasanya menjadi jelas pada tahunpertama kehidupan. Visual fungsi biasanya miskin dan disertai dengan nystagmus, respon pupil
lamban, fotofobia, dan hyperopia. The-digital sign oculo (diulang menggosok mata, menusuk, dan
menekan) adalah karakteristik. Tampilan fundus tersebut sangat variabel. Meskipun awalnya retina
mungkin tampak normal, mengingatkan retinopati pigmen dari pigmentosa retinitis sering diamati
kemudian di masa kanak-kanak. The electroretinogram (ERG) bersifat "nondetectable" atau sangat di
bawah normal.
Tujuhgensaat ini diketahui terkait dengan LCA: CRX, CRB1, GUCY2D, AIPL1, RDH12, RPGRIP1 ,danRPE65 . Bersama inigendiperkirakan untuk menjelaskan, tergantung hasil survei, dari satu
sepertiga sampai setengah dari kasus LCA. Dua lokus penyakit lain untuk LCA telah
dilaporkan.Paling sering, LCA diturunkan dalamautosomal resesifcara, jarang, itu diwariskan
dalamautosomal dominandengan cara sebagai hasil darimutasidalam CRXgen.
Retina-ginjal Senior sindrom Loken. Sepuluh persen individu dengan nephronophthisis, genetikpenyebab paling sering dari gagal ginjal kronis pada anak, memiliki pigmentosa retinitis, yang
merupakan-Loken sindrom-retina Senior ginjal.Mutasidi evolusioner dilestarikangen,IQCB1 (juga
disebutNPHP5 ), adalah penyebab paling sering dari senior-Loken sindrom [Otto et al 2005].
gangguan mitokondria. Mutasidalam mitokondriaDNA(mtDNA) menyebabkan berbagai temuanneurologis termasuk demensia, seperti episode stroke, dan neuropati perifer, serta distrofi retina,turun
temurun neuropati optik Leber, gangguan pendengaran, dan diabetes
melitus. Lihat GeneReviews:Melas,MERRF,Penghapusan Syndrome mitokondria
DNA,mitokondria Penyakit Ikhtisar.
Sepihak RP. Sepihak RP mengacu pada perubahan fungsional dan ophthalmoscopic sepihak, yangkhas dari RP dihasilkan dari berbagai penyebab, beberapa diantaranya mungkin genetik.
Diobati gangguan. Hal ini penting untuk dicatat tiga kelainan bawaan dengan degenerasi retina danmanifestasi sistemik yang ada pengobatan:-Kornzweig penyakit Bassen (abetalipoproteinemia) dengan
acanthocytosis dan malabsorpsi;ataksia dengan kekurangan vitamin E(AVED) (yang disebabkan
olehmutasidalam TTPA , yanggenencoding alpha-tokoferol protein transfer) dengan ataksia dan
neuropati, dan penyakit Refsum (defisiensi phytanic oksidase asam) dengan neuropati, ataksia, tuli,
dan aritmia jantung.
Prevalensi
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Prevalensi RP adalah 19-27 per 100.000. Prevalensi di AS dan Eropa adalah sekitar 1 / 3, 500 untuk 1 / 4,
000.Haim (2002)melaporkan bahwa di Denmark risiko seumur hidup mengembangkan RP adalah 1 /
2500.frekuensi serupa diharapkan pada populasi lain tetapi belum didokumentasikan. RP tidak menunjukkan
etnisspesifisitas, tapi RP disebabkan olehmutasipada khususnyagenmungkin lebih sering di
tertentuterisolasipopulasi atau kerabat.
Penyebab
RP diklasifikasikan sebagai nonsyndromic, atau "sederhana" (yang tidak mempengaruhi organ tubuh lainnya
atau jaringan); sindromik (mempengaruhi sistem lain seperti pendengaran), atau sistemik (mempengaruhi
beberapa jaringan). Ikhtisar ini berfokus pada bentuk nonsyndromic RP. Nonsyndromic RP dapat diwariskan
dalamautosom dominan,resesif autosomatau X-linked cara,. digenic bentuk Langka juga terjadi. Digenic RP
terjadi pada individu yang heterozigot untuk keduaROM1mutasidanRDSmutasi.
kasus Simplex(yaitu, kejadian tunggal dalam keluarga) merupakan 10-40% dari semua individu dengan RP dan
mungkin akibat dari de novodominan autosomatau X-linkedmutasiatauresesif autosomalwarisan, atau
mereka mungkin individu dengan saudara yangterpengaruh(mungkin sedikit) tetapi penyakit yang tidakdiketahui olehterpengaruhindividu.
Tabel 1merangkum proporsi relatif dariprobandsdengan RP dengancara warisan.
Tabel 1. PenyebabTerisolasiretinitis pigmentosa olehMode Warisan
Cara Warisan Proporsi RP SemuaProbands
Autosomal dominanRP (adRP) 15-25%
Autosom resesifRP (arRP) 5-20%
X-linked RP (xlRP) 5-15%
Unknown: Simplex 40-50%
Digenic RP Sangat jarang
Fishman 1978a
Genepemetaan dangenpenemuan telah mengungkapkan bahwa penyebab genetik molekul RP yang luar biasa
rumit [Rivolta et al 2002].Genyang terkait dengan protein encode RP yang terlibat dalam phototransduction
(proses dimana energi sebuah foton cahaya diubah dalam sel fotoreseptor segmen luar menjadi sinyal saraf),
siklus visual (produksi dan daur ulang dari kromofor rhodopsin), struktur fotoreseptor, dan fotoreseptor
seltranskripsi faktor[Phelan & Bok 2000]. Namun, fungsi dari banyakgenyang terkait dengan RP tetap tidak
diketahui.
Kompleksitas ini jelas dalam heterogenitas genetik, yaitu berbagaigendapat menyebabkan penyakit yang sama
[Homs et al 2003,Daiger 2004]. Untuk RP palinggendipelajari hingga saat ini, banyak yang
berbedapenyakit-menyebabkan mutasitelah diidentifikasi, meskipun dalam kebanyakan kasus tertentu
beberapamutasiadalah "umum" di antarayang terkena dampakindividu. Selain banyaknyamutasi
berbedamutasidi samagendapat menyebabkan penyakit yang berbeda. Misalnya, berbedamutasidiRho
yanggenencoding opsin batang, dapat menyebabkandominan autosomalRP,autosomal
dominan bawaankebutaan malam stasioner, atau, jarang,resesif
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8/2/2019 Retinitis pigmentosa Ikhtisar
7/17
autosomalRP.MutasidiRDS, yanggenperipherin pengkodean, dapat menyebabkandominan
autosomalRP,autosomal dominandegenerasi makula, atau RP digenic. keparahan klinis dan
penyakitfenotipsering berbeda antara individu dengan yang samamutasi, kemungkinan besar sebagai akibat
dari dan / atau lingkungan faktor genetik.
Kompleksitas ini dibahas dalam tabel berikut dengan mendaftar beberapagendi lebih dari satu kategori dan
dengan menunjukkan penyakit tambahan yang mungkin dengan berhubungan dengan spesifikgen.
Autosomal dominan RP
Tigagen, rho ,Rp1 , danRDS , account untuk sekitar 25% sampai 30%, 5% sampai 10%, dan 5% sampai 10%
kasus adRP, masing-masing [Berson et al 2001,Sohocki et al 2001] (Tabel 2).
Lebih dari 100Rhomutasitelah dilaporkan tapi satu, P23H, dengan penyakit sektoral yang berbeda, ditemukan
dalam sekitar 10% orang Amerika afffected dengan adRP.
RDSmutasidikaitkan dengan klinisfenotipmulai dari RP untuk degenerasi makula untuk maculopathies
kompleks.
DariRp1mutasidiketahui, dua, Arg677stop dan 2280del5, account untuk setengah dari adRP kasus disebabkan
olehgen.
kloning adRP laingen, seperti PRPF31 , menyebabkan sebagian besar kasus, tetapi prevalensi spesifik belum
diketahui.
Tabel 2.GenMenyebabkanAutosomal MenonjolRP (adRP) (di kromosom Order)
Temp
at
Nama
Gene
Simbol
KromosomLo
kusProtein Nama Juga Penyebab
Persen
adRP
OMI
M
RP 18 PRPF3 1q21.2U4/U6ribonucleoprotein
nuklir kecil Prp3
Beberap
a
keluarga
Rp4 Rho 3q21-Q24 Rhodopsin ResesifRP;dominanCSNB 1 25-30%
Rp7 RDS 6p21.1-cen Peripherin
DominanMD; RP digenic
denganROM1 ;dominandewasa MD
vitelliform 2
5-10%
Rp9 Rp9 7p14.2
Retinitis
pigmentosa 9
protein
Unknown
Rp10IMPD
H17q31.3-Q32
Inosin 5'-monofosfat
dehidrogenase 1
3-5%
Rp1 Rp1 8q11-Q13Oksigen-diatur
protein 15-10%
ROM1 11q13Rod segmen luar
membran protein 1Digenic RP denganRDS Langka
http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID21829http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID21829http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID21829http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID26847http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID26847http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.grID26847http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T2http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T2http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T2http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/phenotype/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-ite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8/2/2019 Retinitis pigmentosa Ikhtisar
8/17
Rp27 NRL 14q11.1-q11.2
Leusin saraf retina
yang spesifik
protein ritsleting
Autosom resesifRP Langka
Rp13 PRPF8 17p13.3
Pra-pemrosesan
mRNAsplicingfaktor 8
Unkno
wn
Rp17 CA4 17q23 Karbonatanhydrase IV Unknown
Rp30 FSCN2 17q25 Fascin 2
3% dariJepang
dengan
adRP
CRX 19q13.3Cone-batang
protein homeobox
DominanKABEL 3,dominandanresesif
LCA 4Langka
Rp11 PRPF31 19q13.4
U4/U6 snRNP
terkait 61-kDprotein
15-20%
Diadaptasi dariRetNet
1. CSNB =bawaanbuta senja stasioner
2. MD = distrofi makula
3. KABEL = kerucut batang distrof
4. LCA = Leberbawaanamaurosis
Autosomal resesif RP
Sebagian besar arRPgenjarang terjadi, menyebabkan 1% atau kasus yang lebih sedikit
tetapiRPE65(dinyatakan dalam RPE), dan PDE6A dan PDE6B (phosphodiesterase subunit dalam kaskade
phototransduction), menyebabkan 2-5% kasus,mutasidi USH2A , yang juga dapat menyebabkan sindrom
Usher, mungkin account hingga 5% dari arRP kasus (Tabel 3).Mutasidalam beberapagenmerupakan
penyebab umum arRP pada populasi tertentu - sepertiRp25 di Spanyol - tetapi jarang di tempat lain. Gejala-
gejala penyakit ini mungkin tumpang tindih dengan yang lainresesif autosomalretinopathies. Secara
khusus,autosom resesif, onset awal RP danbawaan amaurosis Leber(LCA) sangat mirip.
Tabel 3.GenMenyebabkanAutosomal ResesifRP (arRP) (di kromosom Order)
Tempat
Nama
Gene
Simbol
KromosomLoku
sProtein Nama Juga Penyebab
Persen
arRP
OMI
M
RP20/LCA2
RPE65 1p31
Pigmen epitel
retina-spesifik
protein 65 kD
LCA 1 (7-16%) 2%
Rp19 ABCA4 1p21-p13transporter retina-spesifik kaset
ATP-binding
ResesifStargardt penyakit,
dan-batang distrofi kerucut~ 5% 2
Rp12 CRB1 1q31-q32.1 Remah-remah ResesifRP dengan-arteriolar Langka
http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/omim/180721http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/splicing/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/splicing/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/splicing/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.sph.uth.tmc.edu/RetNethttp://www.sph.uth.tmc.edu/RetNethttp://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T3http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T3http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T3http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/omim/600105http://www.ncbi.nlm.nih.gov/omim/601718http://www.ncbi.nlm.nih.gov/omim/601691http://www.ncbi.nlm.nih.gov/omim/248200http://www.ncbi.nlm.nih.gov/omim/204100http://www.ncbi.nlm.nih.gov/omim/180069http://www.ncbi.nlm.nih.gov/omim/606419http://www.ncbi.nlm.nih.gov/omim/600138http://www.ncbi.nlm.nih.gov/omim/602225http://www.ncbi.nlm.nih.gov/omim/120970http://www.ncbi.nlm.nih.gov/omim/607643http://www.ncbi.nlm.nih.gov/omim/114760http://www.ncbi.nlm.nih.gov/omim/600852http://www.ncbi.nlm.nih.gov/omim/600059http://www.ncbi.nlm.nih.gov/omim/162080http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene-symbol/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/locus/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/lca/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/NBK1417/#rp-overview.T3http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/mutation/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/gene/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/congenital/http://www.sph.uth.tmc.edu/RetNethttp://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/recessive/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/dominant/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/splicing/http://www.ncbi.nlm.nih.gov/books/n/gene/glossary/def-item/autosomal-recessive/ -
8/2/2019 Retinitis pigmentosa Ikhtisar
9/17
protein homolog
1
pelestarian butir dari RPE
(PPRPE); LCA (9-13%)
USH2A 1q41Sindrom Usher
tipe IIa proteinUsher syndrome, tipe 2 4-5%
Rp28 2p15-p11 UnknownSatu
keluarga
MERT
K2q14.1
Proto-onkogen-protein tirosinkinase tirosin
kinase MER
Langka
Rp26 CERKL 2q31.2-q32.3Ceramide kinase-
seperti proteinLangka
SAG 2q37.1 S-arrestin Resesifpenyakit Oguchi Langka
Rp4 Rho 3q21-Q24 RhodopsinDominanRP;DominanCSNB3
Langka
CSNB3 PDE6B 4p16.3
Rod cGMP-spesifik 3 ', 5'-
phosphodiesterase beta-subunit
siklik
DominanCSNB 3-4%
CNGA1 4p12-cen
kation cGMP-
gated alpha
channel 1
Langka
Rp29 4q32-q34 UnknownLangka; 4keluarga
LRAT 4q31Lecithin retinolacyltransferase
Unknown
PDE6A 5q31.2-q34
Rod cGMP-
spesifik 3 ', 5'-
phosphodiesteras
e alpha-subunitsiklik
3-4%
Rp14 TULP1 6p21.3Tubby terkait
protein 1Langka
Rp25 6q14-Q21 Unknown
10-20%
dari arRP
diSpanyol
RGR 10q23RPE-retina Gprotein-coupled
receptor
DominanChoroidal sclerosis Unknown
Rp27 NRL 14q11.1-q11.2
Leusin saraf
retina yangspesifik protein
DominanRP
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