Hypomorphic < em > CDHR1 < /em > variants may result in retinitis pigmentosa with relative preservation of cone function

CONCLUSIONS: CDHR1-associated RP shows a relative preservation of cone function in the presence of a presumed hypomorphic allele and may be considered a hypomorphic disease phenotype. Further work is required to identify modifying factors that determine disease phenotype since macular dystrophy, with relative sparing of rods, may also occur with hypomorphic CDHR1 alleles.PMID:37728066 | DOI:10.1080/13816810.2023.2255265

Source: Ophthalmic Genetics - September 20, 2023 Category: Opthalmology Authors: Soma Farag Imran H Yusuf Maria Kaukonen Laura J Taylor Peter Charbel Issa Robert E MacLaren Source Type: research