Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.

ABSTRACT: Background/Objectives: Genetic variants in the cone-rod homeobox (CRX) gene, a transcription factor critical for the differentiation, function, and survival of photoreceptors, are a rare cause of inherited retinal diseases (IRDs). CRX-associated retinopathies can produce variable phenotypes, including Leber congenital amaurosis (LCA), maculopathy (M), cone-rod dystrophy (CRD), and rod-cone dystrophy (RCD), such as retinitis pigmentosa (RP). Based on clinical observations at our eye institute, we hypothesized that nasal retinal degeneration is a feature of CRX-associated maculopathy and M/CRD. Methods: We performed an IRB-approved, retrospective review of patients at our eye institute with CRX-associated retinopathy to assess the frequency of nasal

SUBMITTER: Massengill MT 

PROVIDER: S-EPMC12841240 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature