retinitis pigmentosa

DEPARTMENT OF OPHTHALMOLOGYDEPARTMENT OF OPHTHALMOLOGY

SINDH GOVT.QATAR HOSPITALSINDH GOVT.QATAR HOSPITAL

DR MARIAM KASHIFDR MARIAM KASHIFPOST GRADUATE STUDENT(MCPS)POST GRADUATE STUDENT(MCPS)

DR JAMEEL AHMED BURNEYDR JAMEEL AHMED BURNEY

SUPERVISOR/HEAD OF DEPARTMENTSUPERVISOR/HEAD OF DEPARTMENT

CaseCase

20 year old boy presented with complaint 20 year old boy presented with complaint

Gradual decrease in night vision - 6 Gradual decrease in night vision - 6 monthsmonths

HistoryHistory

Presented with a slow and gradual Presented with a slow and gradual decrease in vision after darkdecrease in vision after dark

Problem increased for past 1 monthsProblem increased for past 1 months No associated headache ,ocular pain, No associated headache ,ocular pain,

fever or vomitingfever or vomiting

Past HistoryPast History

No history of traumaNo history of trauma No history of any prolong illnessNo history of any prolong illness No history of diabetes, hypertension or any No history of diabetes, hypertension or any

other systemic disease.other systemic disease. No drug history or any known drug No drug history or any known drug

allergiesallergies

Family HistoryFamily History

Lives with parents and two younger Lives with parents and two younger brothers, all healthybrothers, all healthy

Positive family history of night blindness in Positive family history of night blindness in maternal grandfathermaternal grandfather

Provisional DiagnosisProvisional Diagnosis

Night BlindnessNight Blindness

(Nyctalopia)(Nyctalopia)

Differential DiagnosisDifferential Diagnosis

CataractCataract Night Blindness (Vitamin A deficiency) Night Blindness (Vitamin A deficiency) Chronic simple GlaucomaChronic simple Glaucoma High myopiaHigh myopia Stationary night blindnessStationary night blindness Retinitis Pigmentosa Retinitis Pigmentosa

ExaminationExamination

Well oriented young manWell oriented young man

Vitals:Vitals: Blood pressure 110/80 mmhgBlood pressure 110/80 mmhg Pulse 80/min,Pulse 80/min, Temp 98 degree.Temp 98 degree.

Systemic examination was normalSystemic examination was normal


RIGHT EYERIGHT EYE LEFT EYELEFT EYE

VISIONVISION 6/66/6 6/66/6

OCULAR OCULAR MOTILITYMOTILITY

NORMALNORMAL NORMALNORMAL

PUPILLLARY PUPILLLARY REACTIONREACTION



RIGHT EYERIGHT EYE LEFT EYELEFT EYE

IOPIOP 1212 1010

CONJUNCTIVACONJUNCTIVA NORMALNORMAL NORMALNORMAL

CORNEACORNEA CLEARCLEAR CLEARCLEAR

ANTERIORANTERIOR

CHAMBERCHAMBER


LENSLENS NORMALNORMAL NORMALNORMAL

FundoscopyFundoscopy

Was done after dilating the pupilWas done after dilating the pupil

Revealed:Revealed: Bone-spicule pigmentary changes in the Bone-spicule pigmentary changes in the

periphery periphery Pale optic disc Pale optic disc Macula healthyMacula healthy

DiagnosisDiagnosis

RETINITIS PIGMENTOSA (RP)RETINITIS PIGMENTOSA (RP)• HistoryHistory

• Bone-spicule pigmentBone-spicule pigment

• Waxy pale optic discWaxy pale optic disc

FundusFundus

NORMAL FUNDUSNORMAL FUNDUS RETINITIS RETINITIS PIGMENTOSAPIGMENTOSA

Retinitis pigmentosa (RP) defines a group of hereditary retinal dystrophies initially and predominantly affecting the rod photoreceptor cells with subsequent degeneration of cones

Most common hereditary fundus dystrophy

Retinitis PigmentosaRetinitis Pigmentosa

Inheritance patternInheritance pattern

Autosomal recessive - most common type of RP. The chance of having this condition is higher if

the parents are related (for example, cousins).

Inheritance patternInheritance pattern

Autosomal dominant - in this form of RP, only one parent has the gene, and is usually affected by the disease as well. Each child has a 50 per cent chance of inheriting this gene and developing RP.

Inheritance patternInheritance patternX Linked. If the father is affected, all sons will be unaffected and all daughters will be carriers. If the mother is the carrier, 1 in 2 sons will be affected and 1 in 2 daughters will be carriers.

Diagnostic CriteriaDiagnostic Criteria

SYMPTOMSSYMPTOMS Bilateral InvolvementBilateral Involvement Loss of peripheral vision (Tunnel vision)Loss of peripheral vision (Tunnel vision) Loss of night vision (nyctalopia)Loss of night vision (nyctalopia)SIGNSSIGNSClassical TriadClassical Triad Retinal bone-spicule pigmentRetinal bone-spicule pigment Arteriolar attenuationArteriolar attenuation Waxy disc pallorWaxy disc pallor

TriadTriad

Why Nyctalopia and tunnel vision?Why Nyctalopia and tunnel vision? Rods detect low light levels.Rods detect low light levels. Rods, found in greater numbers than cones, are Rods, found in greater numbers than cones, are

located across the entire retinal surface. There is a located across the entire retinal surface. There is a higher concentration of rods around the periphery higher concentration of rods around the periphery (edges) of the retina, which allows you to see what is (edges) of the retina, which allows you to see what is above, below and to the sides of the object you are above, below and to the sides of the object you are directly viewing. directly viewing.

Signs of RP usually appear during childhood or adolescence. The first sign is often night blindness followed by a gradual loss of peripheral vision. As the disease develops, people with RP may often bump into chairs and other objects as peripheral vision worsens and only central vision persist. They see as if they are in a tunnel (thus the term tunnel vision).

SignsSigns

In chronological order :In chronological order : Arteriolar narrowingArteriolar narrowing Peripheral bone-spicule pigmentsPeripheral bone-spicule pigments

SignsSigns

Gradual increase in density of the Gradual increase in density of the pigments and anterior and posterior spreadpigments and anterior and posterior spread

SignsSigns

Severe arteriolar narrowingSevere arteriolar narrowing Waxy pallor of optic discWaxy pallor of optic disc

RETINITIS PIGMENTOSARETINITIS PIGMENTOSA

SignsSigns

Pigment clumpsPigment clumps Optic atrophyOptic atrophy Macular atrophyMacular atrophy

Diagnostic ToolsDiagnostic Tools

ERG (Electroretinogram)ERG (Electroretinogram) EOG (Electro-oculogram)EOG (Electro-oculogram) DA (Dark adaptation)DA (Dark adaptation) PerimetryPerimetry

PrognosisPrognosis

AR has favorable prognosis, retention of central AR has favorable prognosis, retention of central vision until 5vision until 5thth-6-6thth decade. decade.

AD best prognosis, retention of central vision AD best prognosis, retention of central vision beyond 6beyond 6thth decade decade

XL worst prognosis with severe visual loss by XL worst prognosis with severe visual loss by the 4the 4thth decade. decade.

Ocular AssociationsOcular Associations

KeratoconnusKeratoconnus Posterior sub capsular cataractPosterior sub capsular cataract Open angle glaucomaOpen angle glaucoma MyopiaMyopia Vitreous detachmentVitreous detachment

Atypical Retinitis PigmentosaAtypical Retinitis Pigmentosa

Cone-rod dystrophyCone-rod dystrophy Retinitis pigmentosa albescensRetinitis pigmentosa albescens Sector RPSector RP

There is no cure for RP.

Low vision aids, including telescopic and magnifying lenses, night vision scopes as well as other adaptive devices.

Vitamin A and lutein may slow the rate at which the disease progresses.

Treatment and ResearchTreatment and Research

Treatment and ResearchTreatment and Research

Gene therapy research introducing a healthy gene into retina.

Transplant Research transplanting healthy retinal cells

Retinal Prosthesis implantable light-sensitive electrode (retinal prosthesis). This prosthesis would be introduced into the eye and function as a “bionic retina”

Improving Quality of LifeImproving Quality of Life

Find best vision field. Find best vision field. Use low vision devices if necessary. Use low vision devices if necessary. Rearrange the furniture to reduce the risk of Rearrange the furniture to reduce the risk of

stumbling or bumping into things.stumbling or bumping into things. Have a support systemHave a support system Tell your family about ways in which they can help Tell your family about ways in which they can help

you you GENETIC COUNSELINGGENETIC COUNSELING

THANK YOUTHANK YOU

retinitis pigmentosa

Health & Medicine