Association of pigmented paravenous retinochoroidal atrophy with a pathogenic variant in the hk1 gene

Discussion: This case describes a pathogenic variant in HK1, a gene that has been associated with RP, but has not been previously reported in association with the pigmented paravenous retinochoroidal atrophy phenotype. This expands the phenotypes associated with HK1 pathogenic variant, p.Glu851Lys, and the genetic association of pigmented paravenous retinochoroidal atrophy to include HK1. Although pigmented paravenous retinochoroidal atrophy has been previously reported to be associated with CRB1 gene, no previous relationship to the HK1 gene has been described.
Source: Retinal Cases and Brief Reports - Category: Opthalmology Tags: Case Report Source Type: research