HEREDITARY PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY

Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare disorder which is diagnosed primarily because of the typical fundoscopic appear ance of retinal pigment epithelial (RPE) atrophy and clumping in a par avenous distribution. A mildly affected and asymptomatic 54-year-old m other and her mildly affected daughter and severely affected son prese nted with pigmented paravenous chorioretinal atrophy. The severely aff ected (proband) 28-year-old man manifested the characteristic paraveno us chorioretinal atrophy with pigment clusters in both eyes with macul ar involvement. Besides the characteristic fundus picture, he also had chronic angle closure glaucoma. His 23-year-old sister presented with unilateral involvement. Her right eye showed focal perivenular retina l pigment epithelial hyperplasia at the 2 o'clock position and dilated , tortuous retinal veins, while her left eye had only dilated and tort uous retinal veins. Both patients were hyperopic. Their mother had an area of chorioretinal atrophy in one eye near a retinal vein. The scot opic ERG responses were markedly abnormal in the male patient, while h is sister had a mild decrease in amplitude of both a and b waves in bo th eyes. One of the children of an unaffected family member was found to have dilated and tortuous retinal veins and hyperopia (III-12). To our knowledge, this is the fourth report of familial occurrence of pig mented paravenous chorioretinal atrophy. The present pedigree is compa tible with X-linked recessive or dominant inheritance.