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Resident’s Day at Academy 2012, Phoenix: Case Report Submission Jill Kronberg, OD Pediatrics Resident 2012-2013 School of Optometry University of California, Berkeley Abstract: This case report reviews Norrie’s disease, an X-linked recessive disease. Emphasis is placed on the differential diagnosis for leukocoria in infants, evaluating functional vision, and optometric participation in the management of infants with Norrie’s disease. I. Case History a. Demographics: 1 year 1 month old Hispanic male presenting to our clinic August 24, 2012. b. Chief Complaint: Referred by a vision impairment specialist with Blind Babies Foundation for a functional visual assessment as well as a 2nd opinion regarding SCL and glasses. i. Pt presented to clinic without any corrective lenses. 1. Pt was fit in SCL for aphakia in August 2012 but patient’s mother was unable to insert the lenses in that morning. Pt does not currently have a spectacle Rx. ii. Mother reports improvement with nystagmus c. Ocular History: i. 4 months old (October 27, 2011) presented to pediatric ophthalmologist with complaint of child not tracking or fixating. Diagnosed with Norrie’s disease with associated findings of bilateral congenital cataracts OD>OS, funnel-shaped retinal detachments OU, and nystagmus. ii. VEP performed 11/17/2011: flat tracing OU, OD, OS. 0 dB flicker 1.9 Hertz shows a flat wave form. Suggestive of poor cortical activity iii. Fundus OD 1. Fibrovascular stalk with broad base extending from ONH. Scattered lacunaue in mid-periphery, atrophic peripheral retina, (-) RD, severe vessel attenuation with no identifiable arcades or macular structure iv. Fundus OS 1. Fibrovascular stalk with broad base extending from ONH. Scattered lacunaue in mid-periphery, atrophic peripheral retina, (-) RD, severe vessel attenuation with no identifiable arcades or macular structure v. B-scans and Fundus photos obtained d. Ocular Surgeries: January 2012-bilateral cataract extraction e. Refractive correction: SCL for aphakia first dispensed August 2012 f. Medications: None g. Medical History: Norrie’s disease II. Pertinent Findings a. Clinical: i. Retinoscopy without cycloplegia 1. Initial: a. OD: +16.75 -2.75 x180 b. OS: difficult to judge (PCO) 2. Re-test: a. OD: +13.00 -1.50 x180 b. OS: difficult to judge (PCO) ii. Visual Acuity: tested with +16.00 DS trial lenses OU 1. UCBSO PL Grating Acuity OU: 0.4/12M or 1 cycle/degree grating acuity a. Reduced 6 times from norms 2. Cardiff Cards OU: Plate B @ 50 cm ~20/300 picture acuity 3. Sweep Visual Evoked Potential @ 50 cm: 5.2 cycles/degree grating acuity a. Reduced 5 times from norms iii. Contrast: tested with +16.00 DS OU 1. Mr. Happy contrast test: 8% Michelson contrast 2. Sweep VEP: 1.7% Michelson contrast iv. Versions 1. Relatively full; cross fixates with OD v. Cover Test 1. Variable alternating ET; OD preferred fixation a. Utilizes cross fixation: looks over nose b. Unable to quantify based on poor fixation vi. Visual Fields 1. Binocular confrontation visual fields with penlight toy: relatively full. Pt prefers to look down and to the right. b. Physical: i. Behavioral 1. Accurately finds sounds and pulls to stand 2. Actively looks for mother 3. Happy demeanor ii. Anterior Segment 1. Aphakia OU a. Dense PCO OS, resulting pupil ~1 mm in diameter in superior pupil iii. Posterior Segment 1. Unable to evaluate secondary to small pupils and decreased cooperation 2. Dilation deferred at this time because followed by OMD III. Differential Diagnosis1,4,6 a. Retinoblastoma1,2 i. Primary: based on severity 1. Most common intraocular malignancy in childhood2 2. Leukocoria 3. Strabismus 4. Unilateral b. Persistent hyperplastic primary vitreous5,6 i. Fibrotic white stalk extending from optic nerve head to posterior lens ii. Generally unilateral c. Congenital cataract1 i. Leukocoria d. Coat’s disease1,6 i. Exudative proliferative vasculopathy ii. Possible retinal detachments e. Retinopathy of prematurity1,6 i. Abnormal vessel proliferation ii. Possible retinal detachments iii. Leukocoria iv. Bilateral IV. Diagnosis and discussion a. Diagnosis: Norrie’s disease with uncorrected hyperopia (aphakia) b. What is Norrie’s disease? i. X-linked recessive disorder affecting the Norrie disease protein (NPD)3 1. NPD encodes protein norrin, responsible for regulating retinal development and hyaloid vessel regression ii. Incomplete retinal vascularization 1. Bilateral 2. Symmetric iii. Affected Populations 1. Males only 2. No associated race iv. Anterior structure appearance 1. Birth a. Normal: cornea, lens, intraocular pressure, globe size6 2. Infancy through Childhood a. Opacification of the lens b. Atrophy of iris i. Posterior synechiae ii. Anterior synechiae c. Corneal opacification i. Band keratopathy d. Decreased intraocular pressure e. Phthisis bulbi v. Posterior structure appearance 1. Birth a. Grayish-yellow fibrovascular mass extending from posterior lens to ONH i. AKA psuedogliomas1 b. Retinal detachments i. Potentially partial, will progress to full during the first few months of life1,3,7 vi. Vision 1. Non-existent to impaired6 vii. Onset 1. Birth to 3 months6 viii. General Treatment 1. Without full RD: surgery or laser therapy 2. Enucleation in cases of increased IOP (rare) ix. Management 1. Yearly eye examinations 2. Refer for genetic counseling 3. Advise routine hearing evaluations 4. Behavioral therapy as indicated per individual6 c. Associated Conditions i. Progressive hearing loss 1. Norrin protein involved with inner ear vascular maintenance3 2. Hearing loss around late teens 3. High frequencies affected first, speech discrimination well preserved6 4. Similar to tinnitus 5. Waxes and wanes 6. Cochlear implants effective ii. Peripheral Vascular Disease 1. Varicose veins, peripheral venous stasis ulcers, erectile dysfunction 2. Onset after age 15 3. Erectile dysfunction does not improve with pharmacologic intervention7 iii. Cognitive/Behavioral 1. 30-50% of patients have developmental delays6 a. Similar to Autism/Autism-like or pervasive developmental disorder7 iv. Neurological 1. Seizure disorders a. Not commonly associated with Norrie’s but still prevalent7 V. Treatment, management a. Continue yearly health checks with Ophthalmologist b. Continue contact lens wear and regular follow-up c. Rx single vision spectacles for wear when SCL not used i. Provide patient with best-corrected vision to utilize remaining vision. ii. Consider bifocal when pt is older d. Encourage regular hearing screenings through primary care physician e. Continue early intervention services with Blind Babies Foundation. The patient is legally blind and therefore qualifies for services usually through the Department of Rehabilitation f. Provided a report summarizing findings of functional vision examination and importance of constant refractive error correction for aphakia. VI. Clinical Pearls a. Leukocoria: multiple etiologies b. Important to assess ocular health in all infants c. Determine functional vision to qualify patient for optimal services VII. Works Cited 1. Damasco, Veronica C., MD,MC, and Daniel J. Dire, MD. "A Child with Leukocoria." Pediatric Emergency Care 27.12 (2011): 1170-174. Print. 2. Dimaras, Helen, Kahaki Kimani, and Elizabeth A. O Dimba. "Retinoblastoma." Lancet 379 (2012): 1436-446. Print. 3. Drenser, Kimberly A., Alice Fecko, Wendy Dailey, and Michael T. Trese. "A Characteristic Phenotypic Retinal Appearance In Norrie Disease." Retina 27.2 (2007): 243-46. Print. 4. Gogate, Parikshit, Clare Gilbert, and Andrea Zin. "Severe Visual Impairment and Blindness in Infants: Causes and Opportunities for Control." Middle East African Journal of Ophthalmology 18.2 (2011): 109-14. Print. 5. Shastry, Barkur S. "Persistent Hyperplastic Primary Vitreous: Congenital Malformation of the Eye." Clinical & Experimental Ophthalmology (2009): n. pag. Print. 6. Sims, Katherine B. "Summary." NDP-Related Retinopathies. U.S. National Library of Medicine, 30 July 1999. Web. 23 Aug. 2012. <http://www.ncbi.nlm.nih.gov/books/NBK1331/?report=printable>. 7. Smith, Sharon E., Thomas E. Mullen, Dionne Graham, Katherine B. Sims, and Heidi L. Rehm. "American Journal of Medical Genetics Part A." - Volume 158A, Issue 8. N.p., 11 July 2012. Web. 22 Aug. 2012. <http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.v158a.8/issuetoc>.