Spinocerebellar ataxia type 7 with RP1L1-negative occult macular dystrophy as retinal manifestation.

Conclusions: SCA7 can present with a very mild form of retinal degeneration similar to the classic phenotype of RP1L1-negative OMD in case of the lower number of CAG repeats.
PMID: 31269856 [PubMed - as supplied by publisher]

Source: Ophthalmic Genetics - July 5, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research