PURPOSE: To describe the phenotypic variability in 22 patients with PRPH2 gene mutations and to report six novel mutations. DESIGN: Retrospective study. METHODS: Clinical examinations included color vision testing, perimetry, fundus autofluorescence (FAF), fluorescein angiography, optical coherence tomography (OCT), and full-field and multifocal electroretinography (International Society for Clinical Electrophysiology of Vision standards). Blood samples were taken for deoxyribonucleic acid (DNA) extraction and mutation screening was performed by direct sequencing of polymerase chain reaction amplicons. RESULTS: Eleven unrelated patients and four unrelated families each with two affected members as well as one family with three affected members were examined. Diagnoses included central areolar choroidal dystrophy (CACD; n = 9), autosomal dominant retinitis pigmentosa (adRP; n = 7), adult vitelliform macular dystrophy (n = 3), and cone-rod dystrophy (CRD; n = 3). FAF was abnormal in all patients and showed various retinal pigment epithelial alterations, in CACD with a speckled FAF pattern. OCT revealed reduced retinal thickness, mostly in CACD, subretinal lesions, macula edema, or was normal. Follow-up (n = 12; range, 1.3 to 26 years) showed a slow progression of the retinal dystrophies. DNA testing revealed previously reported PRPH2 mutations in two families and eight individuals of whom two carried the same mutation but had different phenotypes. Novel PRPH2 mutations were detected in two families with adRP, in identical twins with CACD, and in each of an individual with CACD, CRD, and adRP. CONCLUSIONS: This series describes the broad spectrum of phenotypes associated with PRPH2 mutations. FAF and OCT are helpful tools for diagnosis and evaluation of disease progression. We report novel PRPH2 mutations in patients with CACD, CRD, and adRP.
