Key clinical and genetic features of CRB1-associated retinopathies identified

Key retinal signs, such as geographic macular degeneration and hyperopia, are more prevalent in patients with CRB1 mutation compared to other inherited retinal diseases, according to a study.

The multicenter study included 40 patients with CRB1 mutations and 40 age- and gender-matched individuals with other inherited retinal diseases (IRDs).

Certain retinal features were found to be particularly prevalent in patients with CRB1 mutation, including yellowish geographic macular degeneration (66.67%), small white or yellow dots (65.6%), and hyperopia (62.5%). These characteristics were significantly more common in patients with CRB1 compared to other IRD groups. In addition, patients with early-onset severe retinal dystrophy/Leber congenital amaurosis exhibited more pronounced retinal changes, such as thicker peripheral retinas and thinner central fovea, compared to those with retinitis pigmentosa or macular dystrophy.

The study also identified 55 pathogenic variants, including 20 novel mutations. Null mutations were linked to early-onset severe retinal dystrophy/Leber congenital amaurosis, while missense mutations were more common in retinitis pigmentosa and macular dystrophy.

Reference
Wang MY, Gao FJ, Ju YQ, et al. Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study. J Med Genet. 2024;jmg-2024-110289. doi: 10.1136/jmg-2024-110289. Epub ahead of print. PMID: 39496395.