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PEDIATRICS SYNDROMES WITH EYE MANIFESTATIONS DR. Maisa Mohammed Alsweilem Consultant Ophthalmology MD, FRCS, ABO, KKESH fellow Medical Director PABMH Slide 2 NORMAL INFANT EXAMINATION RED FLAGS SYNDROMES WITH EYE MANIFESTATIONS TAKE HOME MASSAGES Contents 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2 Slide 3 Infant Eye Examination Normal Eye findings following delivery Red reflex Hold ophthalmoscope 6-8 from eye. Should transmit a clear red color back. Equal pupil size and reactivity to light Absence of tears Blinking reflex is present in response to touch Can not follow an object (Rudimentary fixation on objects). Retinal or Subconjunctival Hemorrhages Common after vaginal delivery Clears spontaneously in 1-2 weeks Lid edema Force applied to open the eye often results in lid eversion Examination should be postponed until the edema resolves Eye Color Gray color, Permanent eye color usually not attained until age 6 months 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow3 Slide 4 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow4 Eyelid EdemaDysconjugate Eye Movements Congenital Glaucoma Congenital Cataracts Slide 5 Absent Red reflexes Red reflex absentRed reflex abnormal Normal Congenital Cataracts Optimal time for surgery is 4 6 weeks Should be referred to an ophthalmologist early Retinal and vitreous diseases Should be referred to an ophthalmologist early What does it mean? Slide 6 Infant Eye Examination Retinal or Subconjunctival Hemorrhages Common after vaginal delivery Clears spontaneously in 1-2 weeks 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow6 Slide 7 Eye Examination Abnormal Funduscopic Exam Lens opacity Indicates congenital cataract Associated with TORCH Virus infection If monocular or dense cataract, newborn is at risk for developing amblyopia. Leukocoria (White reflex or Cats eye reflex) Suggests lens, vitreous or fundus abnormality Evaluate for Retinoblastoma Requires Opthalmologic Referral Slide 8 Eye Examination Coloboma (ocular tissue defect) Eyelid margin defect: Treacher Collins Syndrome Aniridia (absent iris) Usually occurs bilaterally Associated with poor visual acuity and nystagmus Iris and retina defect: CHARGE association Coloboma Heart disease Choanal Atresia Postnatal growth retardation Genital hypoplasia Ear Abnormality Requires Opthalmologic Referral Slide 9 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow9 Slide 10 syndromes with eye manifestations CHARGE Syndrome Treacher-Collins Syndrome (Mandibulofacial dysostosis) Apert (acrocephalosyndactyly) Crouzon Syndrome (Craniofacial Dysostosis) Down Syndrome (Trisomy 21) Goldenhar Syndrome (Oculoauriculovertebral spectrum) Noonan Syndrome Stickler Syndrome Usher Syndrome 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1023/11/2014 Slide 11 syndromes with eye manifestations Velocardiofacial Syndrome (Shprintzen Syndrome) Waardenberg Syndrome Neurofibromatosis 1 (Von Reklinghausen Disease) Neurofibromatosis 2 Sturge-Weber Syndrome (Encephelotrigeminal angiomatosis) Pfeiffers syndrome Harlequin Syndrome Moebius Syndrome (Congenital Facial Diplegia) Maffucci syndrome 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1123/11/2014 Slide 12 syndromes with eye manifestations Kasabach-Merritt syndrome Melkersen-Rosenthal Syndrome (Chelitis Granulomatosa) Cri-du-chat (cat's cry) syndrome Cat Eye Syndrome / Schmid Fraccaro Syndrome chromosome 22 Tuner syndrome Ring-D chromosome Lowe Syndrome Monosomy-G syndrome Albinism Trisomy 13 Patau Trisomy 18 Edward Axenfled-Rieger syndrome 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow12 Slide 13 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow13 Slide 14 CHARGE Syndrome Autosomal Dominant Due to a mutation in DNA-binding protein-7 ( CHD7 ) gene Coloboma- posterior chamber(80%) Heart anomalies (85%) Atresia of choana (57%) Retardation- growth(80%) & mental (70%) Genital defects (in males) Ear anomalies (90-100%) & deafness(62%) Usually bilat and mixed hearing loss 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1423/11/2014 Slide 15 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1523/11/2014 Slide 16 Treacher-Collins Syndrome (Mandibulofacial dysostosis) Autosomal dominant, 40% will have family history, other 60% new mutations TCOF1 gene found on chromosome 5q ( TREACLE gene ) Malformation of 1st (& 2nd) branchial arches Otologic: Malformed ossicles, auricular deformity, aural atresia, CHL present 30% of time, occasional SNHL 50% will have hearing impairment from EAC and/or middle ear malformations Preauricular fistulas, mandibular and malar hypoplasia, antimongoloid palpebral fissures, coloboma of the lower eyelids, may have cleft lip and palate, normal IQ. Zygomatic and mandibular hypoplasia, lower lid colobomas, and downslanting palpebral fissures. 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1623/11/2014 Slide 17 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow17 Slide 18 Apert (acrocephalosyndactyly) Autosomal dominant, most cases due to spontaneous mutation Due to a mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene ( 10q26 ) Common findings: Craniosynostosis (pre-mature fusion of the cranial sutures) Severe symmetrical syndactyly Low-set ears Cognitive function normal to severe mental retardation Eyes: down-slanting palpebrael fissures, Hypertelorism, Exophthalmos Midface hypoplasia Mandibular prognathism Possible cleft palate Nose: Parrot-beaked nose, possible Choanal Atresia Syndactyly and cervical fusion 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow1823/11/2014 Slide 19 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow19 Slide 20 Crouzon Syndrome (Craniofacial Dysostosis) Autosomal dominant, 50% due to spontaneous mutations, complete penetrance, variable expresivity Due to mutation of FGFR-2 (Fibroblast Growth Factor Receptor) gene ( 10q26 ) Common findings: Craniosynostosis (pre-mature fusion of the cranial sutures) Hypertelorism Exophthalmos Midface hypoplasia Mandibular prognathism Parrot-beaked nose No Syndactyly or cervical fusion Cognitive function normal to severe mental retardation 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2023/11/2014 Slide 21 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow21 Slide 22 Down Syndrome (Trisomy 21) Craniofacial Features: Brachycephaly Flat occiput Abnormal small ears Upslanting palpebral fissures Epicanthic folds Short small nose Midface hypoplasia Large fissured lips Large fissured tongue Dental abnormalities Short neck Atlantoaxial subluxation & instability 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2223/11/2014 Slide 23 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow23 Slide 24 Goldenhar Syndrome (Oculoauriculovertebral spectrum) Characterized by unilateral facial asymmetry, unilateral external & middle ear changes, vertebral malformations Ocular findings: upper lid colobomata Otologic findings: mildly deformed ears to anotia, EAC atresia, ossicular abnormalities Underdevelopment of mandible, orbit, facial muscles, also may have hemivertebrae of vertebral column Hemifacial macrosomia often placed in this category Most cases sporadic, some autosomal dominant reported 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2423/11/2014 Slide 25 Goldenhar Syndrome (Oculoauriculovertebral spectrum) Goldenhar syndrome. This 5-year-old boy has facial asymmetry and right microtia. Reference: Baileys Otolaryngology-Head & Neck Surgery 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2523/11/2014 Slide 26 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow26 Slide 27 Noonan Syndrome Originally thought to be a variant of Turner Syndrome- used to be referred to as male version of Turner Syndrome Autosomal Dominant PTPN11 gene (12q24) Clinical Findings: Growth Development: 80% have short stature Facial Features: Triangular face, hypertelorism, down-slanting eyes, ptosis, strabismus (48%), amblyopia (33%), refractive errors (61% ), low-set ears with thickened helices, high nasal bridge, short webbed neck. Otologic Features: progressive HF-SNHL in up to 50% Chest/Back Features: pectus carinatum/excavatum, scoliosis Cardiac Features: pulm valve stenosis common, possibly any defect Abdominal Features: hepatosplenomegaly (25%) Genitourinary Features: renal anomalies (10%), undescended testes (50%) Skeletal Features: bleeding diasthesis,joint laxity (50%), radioulnar synostosis, cervical spine fusion Skin Findings: lymphedema, prominent pads fingers and toes (67%), follicular keratosis of face and extensor surfaces (14%) Neurologic Features: hypotonia, Sz disorder (13%) 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2723/11/2014 Slide 28 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow28 Slide 29 Stickler Syndrome Autosomal dominant, mutation of COL2A1 gene on chromosome 12 responsible for type II collagen gene COL2A1: typically mild and not significantly progressive hearing loss COL11A1: more severe hearing loss COL11A2: non-ocular Stickler syndrome, hearing like COL11A1 Small jaw with Robin sequence & cleft palate Myopia with retinal detachment & cataracts Hypermobility & enlarged joints, early onset arthritis, occ. spondyloepiphyseal dysplasia SNHL or mixed HL in 80%, educationally significant in 15% 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow2923/11/2014 Slide 30 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow30 Slide 31 23/11/2014 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow31 Slide 32 23/11/20142 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow32 Slide 33 Usher Syndrome Autosomal recessive, 10% of hereditary deafness Retinitis pigmentosa causing progressive visual loss. Patients born deaf secondary to atrophy of organ of Corti. Ataxia and vestibular dysfunction common Eye changes detected on electroretinography even before funduscopic changes identified; ophthalmology consult essential 2 peadiatric symposium Dr. Maisa Alsweilem, MD, FRCS, ABO, KKESH fellow3323/11/2014 Slide 34 Usher Syndrome Four main types: Type I: profound congenital deafness, RP onset by age 10, no vestibular response; 90% of Ushers Type II: moderate/severe congenital deafness, onset of RP in teens/twenties, normal or decreased vestibular response, 10% of all cases Type III: progressive HL, RP begins in puberty,