Novel heterozygous < em > PRPH2 < /em > variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy

CONCLUSIONS: To our knowledge, this is the first case of macular dystrophy identified in a patient with SCA14. While it is possible that the macular dystrophy observed in this patient might be an under-reported phenotype associated with SCA14, the pattern of macular changes is consistent with PRPH2-related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.PMID:38419591 | DOI:10.1080/13816810.2024.2321883
Source: Ophthalmic Genetics - Category: Opthalmology Authors: Source Type: research