Spinocerebellar ataxia type 7 with RP1L1-negative occult macular dystrophy as retinal manifestation
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1633548
Abstract: ABSTRACT Background: Spinocerebellar ataxia Type 7 (SCA7) is an autosomal dominant, progressive neurodegenerative disorder, primarily characterized by cerebellar ataxia. The disease is caused by the expansion of a CAG trinucleotide repeat within the ataxin-7 gene… read more here.
Keywords: ataxia type; spinocerebellar ataxia; occult macular; rp1l1 negative ... See more keywords
Occult Macular Dystrophy: a case report and major review
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2089361
Abstract: ABSTRACT Background Occult Macular Dystrophy (OMD), a rare autosomal dominant disorder caused by mutations in the retinitis pigmentosa 1-like protein 1 gene (RP1L1), is characterized by loss of central visual acuity in the absence of… read more here.
Keywords: report; macular dystrophy; occult macular; omd ... See more keywords