Retina. 2025 Oct 27. doi: 10.1097/IAE.0000000000004713. Online ahead of print.
ABSTRACT
PURPOSE: Biallelic pathogenic variants in MER tyrosine kinase (MERTK) result in a retinopathy that is of interest because gene therapy animal models have been promising. The purpose of this report is to characterize the condition in a cohort from the United Arab Emirates (UAE).
METHODS: Retrospective cases series (2016-2023, inclusive).
RESULTS: Nine families (19 affected patients) were identified. Juvenile rod-cone dystrophy with early macular involvement was the recurrent phenotype. Asymmetric visual acuity related to central macular atrophy was common after 10 years old (11/17 patients). Visual acuity was 20/70 or worse in at least one eye after 17 years old in all patients except one. Most patients had disc drusen (14/19) and myopia (16/19). Genetic testing revealed 1 of 3 homozygous pathogenic variants (NM_006343.3): c.2214del;p.Cys738Trpfs*32 (7 families, 14 patients), c.2262C>G;p.Tyr754*(1 family, 4 patients), c.2020A>G;p.Met674Val (1 family, 1 patient).
CONCLUSION: In MERTK-related retinopathy, significant visual acuity loss usually occurs by the teenage years and is often asymmetric. Disc drusen and myopia are recurrent. In the UAE, a specific variant underlies most cases (c.2214del;p.Cys738Trpfs*32) and likely represents founder effect.
PMID:41166683 | DOI:10.1097/IAE.0000000000004713
