A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.

CONCLUSION: A probable pathogenic frameshift variant was identified in homozygosity in the RLBP1 gene with an autosomal recessive transmission as another cause of retinitis punctata albescens. This DNA variant will aid ongoing functional studies and add to our understanding of the molecular pathology about RLBP1-associated retinopathies. PMID: 32345050 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32345050?dopt=Abstract

Source: European Journal of Ophthalmology - April 27, 2020 Category: Opthalmology Authors: Torres-Costa S, Ferreira CS, Grangeia A, Santos-Silva R, Brandão E, Estrela-Silva S, Falcão-Reis F Tags: Eur J Ophthalmol Source Type: research