Concurrent retinitis pigmentosa and pigmented paravenous retinochoroidal atrophy phenotypes in the same patient

Abstract

We report a unique case of a patient with retinitis pigmentosa (RP) phenotype in one eye and pigmented paravenous retinochoroidal atrophy (PPRCA) phenotype in the other eye. We describe in detail the symptoms, clinical findings, and investigations done for a 32-year-old Indian woman. This patient had phenotypical picture resembling typical RP in the right eye, with characteristic symptoms of night blindness and constricted field of vision and a nonrecordable electroretinogram (ERG). The left eye of the same patient revealed typical PPRCA phenotype, with no night blindness, normal field, and normal ERG. RP and PPRCA phenotypes are part of the same spectrum of genetic disorder. However, it is rare to see them coexist in the same patient.

Keywords

• CRB1 gene mutation
• hereditary disorders
• night blindness
• pigmented paravenous retinochoroidal atrophy
• retinal degeneration
• retinitis pigmentosa
• unilateral retinal degeneration