Hereditary Pigmented Paravenous Chorioretinal Atrophy

An affected, but asymptomatic, mother and her three sons presented with pigmented paravenous chorioretinal atrophy. The patients had coarse pigment clumps and areas of chorioretinal atrophy in a paravenous distribution. The severity of chorioretinal changes was variable; two of the patients had macular involvement. Signs of vitreoretinal degeneration were seen in all patients; the sons had associated hyperopia and esotropia. Electroretinography revealed decreased photopic responses with normal scotopic responses in five of six eyes tested. To our knowledge, this is the second account reported of familial occurrence of pigmented paravenous chorioretinal atrophy. The present pedigree is compatible with X-linked or dominant inheritance.