Lecture 11 Peds Ocular Disease 1.pdf

RETINAL DISEASE PRESENTING IN CHILDHOOD 66 STARGARDT DISEASE Most common childhood macular degeneration Slowly progressive macular degeneration Presents age 8-14 years of age Progressive VA loss to 20/200 by age 30 Early in disease fundus may appear normal...

RETINAL DISEASE PRESENTING IN CHILDHOOD 66 STARGARDT DISEASE Most common childhood macular degeneration Slowly progressive macular degeneration Presents age 8-14 years of age Progressive VA loss to 20/200 by age 30 Early in disease fundus may appear normal Later loss of FR then round pigmented macular atrophy 67  STARGARDT DISEASE Fundus Flavimaculatus Yellowish/white flecks in periphery Often fovea-sparing Later disease onset Both are caused by abnormal accumulation of lipofuscin in RPE and share the same chromosomal locus (ABCA4 gene) -first sign may be loss of foveal reflex 68  BEST’S VITELLIFORM MACULAR DYSTROPHY Autosomal Dominant, BEST1 gene Sharply defined, yellowish discoid lesion in macular area (egg yolk) Diagnosed between 3-15 years of age Later, lesion may break up and result in atrophic macular changes (scrambled egg) Resulting in vision of ~20/200 -vitelliform means egg like 69  X-Linked recessive X-LINKED Occurs in males JUVENILE Bilateral but often asymmetric RETINOSCHISIS VA at presentation 20/70 to 20/100 Deteriorates until age 20 to 20/200 -boys are more likely to get it 70 X-LINKED JUVENILE RETINOSCHISIS Foveal retinoschisis Spoke-like appearance Peripheral retinoschisis (50%) Usually inferior temporal Often vitreous hemorrhages, NFL breaks, and retinal detachment associated 71 72 CONE DYSTROPHY Heterogeneous group of disorders Photophobia/hemeralopia, reduced central vision, abnormal color vision Abnormal cone ERG May have later evidence of rod dysfunction Bull’s eye maculopathy Temporal pallor of ONH 73  RETINITIS PIGMENTOSA Retinal signs Salt and pepper appearance Bone spicules Optic atrophy Vessel attenuation Sometimes no retinal abnormalities Usually present by age 30 -fundus autofluorescence is wonderful to use for any of these conditions to see early changes 74