Grand Rounds - Optic Atrophy vs Albinism 11-04.pptVIP

Rule #3 Jay C Bradley MD Sandra M Brown MD Case Chief Complaint: left eye crosses HPI 18 month old healthy girl Left eye crossing intermittently for 4-5 mos More noticeable when tired Worsening overall PMH Normal pregnancy, delivery, development Examination Normal visual attention for age Bruckner – large superior crescents OU ITT One refixation OD No movement OS Motility Orthophoria at distance Orthotropia with 8-10 PD esophoria at near Versions full w/o oblique overaction Penlight exam Normal OU Fundus exam Small optic nerves with indistinct borders OU Mild macular hypoplasia OU Lightly pigmented throughout Refraction +5.50 + 1.00 x 95 OD +6.00 + 1.00 x 90 OS Hereditary Optic Nerve Atrophy Bilateral gradual loss of central vision VA 20/40 to 20/100 Long term prognosis – rarely 20/200 Generally starts in first decade Dyschromatopsia Ceocentral or paracentral scotomas with preserved peripheral field initially Optic discs Temporal pallor Triangular temporal excavation Inheritance Usually autosomal dominant Occasionally autosomal recessive Phenotype varies by rate of vision loss Brown’s Rules of Pediatric Ophthalmology #1 Don’t make the child cry #2 Don’t let the child make you cry #3 Everything in pediatric ophthalmology makes sense Lee Jampol’s Clinic Rule Try not to give the patient more than one disease McCartney’s Rule A patient may have as many diseases as they wish Albinism Foveal hypoplasia Critical clinical feature Iris transillumination defects Very difficult to detect in young kids Minimal fundus pigmentation Light-skinned Doesn’t tan easily “very light hair when young” Sensory nystagmus Foveal function in infancy 20/200 OU High hyperopia Accommodative esotropia Poor binocular stability Abnormal ganglion cell decussation Amblyopia Racial Differences Caucasians Tyrosinase gene mutations African Americans Intermediate phenotype P gene mutations Always on the Boards Chediak Higashi syndrome White cell dysfunction Recurrent infection Hermansky Pudlak