Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy.

CONCLUSIONS: We report a case of progressive rod-cone dystrophy caused by a novel mutation in SLC4A7, a gene coding the sodium bicarbonate cotransporter NBC3, underscoring the importance of ion homeostasis for photoreceptor function and maintenance. PMID: 32594822 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research