Hereditary pigmented paravenous chorioretinal atrophy
E. I. Traboulsi and I. H. Maumenee
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.
