Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.

CONCLUSIONS: The natural history of this individual's RP is consistent with previously described MAK mutations, being significantly milder than that associated with other photoreceptor ciliopathies. We suggest inclusion of MAK as part of wider genetic testing in all individuals presenting with RP. PMID: 29781741 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29781741?dopt=Abstract

Source: Ophthalmic Genetics - May 22, 2018 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research