Autosomal dominant pericentral retinochoroidal atrophy

To describe a family pedigree with a newly described hereditary retinal disease.

Five family members were examined, and a fifth deceased family member was identified through review of old medical records.

Five individuals had annular or arcuate pericentral areas of retinal (younger members) or choroidal (older members) atrophy and spared maculae with good visual acuity and normal retinal periphery. Two of the four examined affected family members were symptomatic only for field loss; the other two were asymptomatic. No nyctalopia was reported by any affected individual. Fluorescein angiography revealed hyperfluorescence in the affected areas in the family members with retinal atrophy and hypofluorescence in affected areas in family members with choroidal atrophy. Visual field scotomas were dense and corresponded to the areas of retinal and/or choroidal atrophy. Full-field electroretinograms were normal for two family members and were reduced for one family member with the most advanced retinal and choroidal changes. The scotopic response was only mildly reduced in the fourth examined family member.

We believe that we have identified a pedigree with a previously undescribed autosomal dominant hereditary retinal disease characterized by arcuate retinal and retinochoroidal atrophy and normal visual acuity.