Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q.

PURPOSE: The gene for progressive bifocal chorioretinal atrophy (PBCRA) has been linked to chromosome 6q, near the genomic assignment for North Carolina macular dystrophy. A study was undertaken to define the clinical features of a large PBCRA pedigree and to determine whether PBCRA and North Carolina macular dystrophy are phenotypically distinct entities. METHODS: Fifteen affected individuals from 1 large family were examined clinically, which included angiography and electrophysiologic studies. RESULTS: The PBCRA is an autosomal dominant chorioretinal dystrophy of early onset characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow progression. A large atrophic macular lesion and nasal subretinal deposits are evident soon after birth. An atrophic area nasal to the optic nerve head appears in the second decade, which enlarges progressively. Electro-oculographic and electroretinographic studies indicated marked, diffuse abnormalities of rod and cone function. Fluorescein and indocyanine green angiography showed a large circumscribed area of macular choroidal atrophy with staining of deposits in the peripheral retina. In addition to previously documented features, nasal retinal abnormalities from a few weeks of age, marked photopsia in a number of patients, and retinal detachments in three eyes are reported as new features of the disease. CONCLUSIONS: An extended description of PBCRA is presented highlighting that the phenotype is distinct from North Carolina macular dystrophy, although some phenotypic similarities exist between the two conditions. These disorders may be the result of different mutations on the same gene or nearby genes.