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Indian J Ophthalmol ; 64(10): 775-777, 2016 Oct.
Article in English | MEDLINE | ID: mdl-27905344

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.


Subject(s)
Choroid Diseases/genetics , Choroid/pathology , Pigment Epithelium of Eye/pathology , Retinal Degeneration/genetics , Retinal Vein/pathology , Retinitis Pigmentosa/diagnosis , Visual Acuity , Adult , Atrophy/diagnosis , Atrophy/genetics , Choroid Diseases/diagnosis , Electroretinography , Female , Fluorescein Angiography , Fundus Oculi , Humans , Phenotype , Retinal Degeneration/diagnosis , Retinitis Pigmentosa/genetics
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