Failed Eye Exam Rochelle Cochrane, M.D. January 13, 2006 Tracy Crnic, M.D.

Case Presentation 5 y/o Caucasian Female presents to pediatric ophthalmology clinic after “failing” school eye exam Mother has not noticed any eye problems up to this point. Pt has had normal development. PMH, PSH, FHx – negative Birth Hx – normal pregnancy and birth without complications

Case Presentation VA sc OD 20/400 OS 20/20 Stereo Vision 0/3 Animals, 0/9 Circles Motility Full OU OrthoTropic and OrthoPhoric Bruckner sc brighter reflex OS Pupils equal, round, reactive to light and accommodation; No APD OU

Case Presentation PLE –Normal Facial Features –LLL WNL OU –Conj Clear and Quiet OU –Cornea Clear and Compact OU –A/C Deep and Quiet OU –Iris Normal OU –Lens Clear OU

Case Presentation Cyclopegic Retinoscopy –OD – x85 –OS x93 Fundoscopic Exam

Differential Diagnosis Optic Nerve Coloboma Morning Glory Anomaly Peripapillary Staphyloma Optic Disc Drusen Megalopapilla Optic Disc Dysplasia Glaucomatous Cupping Optic Pits

Differential Diagnosis – Syndromes CHARGE –Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genital and Ear anomalies Aicardi – death usually occurs in first few years of life –Multiple depigmented chorioretinal lacunae clustered around disc, congenital disc anomalies –Epileptic seizures, agenesis of corpus callosum, psychomotor retardation Alagille –Posterior Embryotoxon and retinal pigmentary changes, eccentric pupils –Jaundice, heart defects, poor school performance

Differential Diagnosis – Syndromes Edwards –Optic Atrophy, congenital glaucoma, corneal and lens opacities –Failure to thrive, heart defects, mental retardation Lenz Microphthalmia –Coloboma, microcornea, microphthalmia –Severe renal dysgenesis, dental anomalies, severe speech impairment, short stature Patau – fatal in first few months of life –Coloboma, microphthalmia, cataracts –Heart defects, cerebral hypoplasia, renal abnormalities, respiratory involvement, GI disease, urogenital involvement

Fundus Exam

Morning Glory Anomaly Named after resemblance of optic nerve to the Morning Glory flower Incidence is unknown, but very rare Congenital abnormality Sporadic, not inherited – colobomas run in families Usually unilateral – colobomas bilateral More common in females – equal in coloboma and staphyloma

Morning Glory Anomaly Pathogenesis unknown –Abnormal closure of embryonic fissure (like coloboma) –Abnormal development of distal optic stalk at its junction with the primitive optic vesicle Disc enlarged with funnel-shaped excavation centrally – coloboma inferior temporal, staphyloma normal disc sunken and cup shaped Central core of whitish glial tissue, either elevated or recessed, representing persistent hyaloid remnants - unique

Morning Glory Anomaly Surrounding elevated annulus of chorioretinal pigmentary disturbance – not seen in colobomas Increased number of blood vessels, difficult to distinguish arteries from veins, which emerge in radial pattern from disc like spokes on a wheel - unique Unusual phenomenon of contractile movements of the optic disc due to cuff of smooth muscle tissue in terminal optic nerve

Morning Glory Anomaly Visual potential from 20/20 to NLP, usually 20/100 to 20/200 Serous retinal detachment develops in about 30% of patients Systemic associations rare –Frontonasal dysplasia Hypertelorism, depressed nasal bridge, hare lip, or cleft palate Basal encephalocele, absent corpus callosum, or pituitary deficiency –Neurofibromatosis type 2

Work-up, Treatment and Follow-up CT or MRI Head for possible Basal Encephalocele Referral to pediatrician Given full glasses prescription Trial of patching, but should be discontinued if no improvement Regular follow-up for retinal detachment –Spontaneous reattachment has been reported Haik, et al. Ophthalmology Dec;91(12):

Results Obtained CT Head –normal orbits, symmetrical and normal optic nerves, no intracranial masses, fluid collections or cystic structures Referred to pediatrician Given Rx –OD x85 –OS plano x93 Patching OS 7 hours/day for 5 days/week 5 weeks later VA cc OD 20/200 OS 20/20 Follow up in 3 months

References Kanski, JJ. Clinical Ophthalmology: A Systemic Approach. 5 th ed. Elsevier Science Limited; Philadelphia Dutton, GN. Congenital disorders of the optic nerve: excavations and hypoplasia. Eye. 2004;18(11): Pollock, S. The morning glory disc anomaly: contractile movement, classification, and embryogenesis. Doc Ophthalmol Apr;65(4): Roy, FH. Ocular Syndromes and Systemic Diseases. 3 rd ed. Lippincott Williams and Wilkins; Philadelphia Simon, JW, et al. Pediatric Ophthalmology and Strabismus. AAO; San Francisco. 2005; 339. Chan, RT, et all. Morning glory syndrome. Clin Exp Optom. 2002;85(6): Pictures