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| Retinal disorders v4.71 | ATXN7_CAG |
Siying Lin STR: ATXN7_CAG was added STR: ATXN7_CAG was added to Retinal disorders. Sources: Literature Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: ATXN7_CAG were set to PMID: 27632585, Phenotypes for STR: ATXN7_CAG were set to Maculopaty; Cone-Rod Dystrophy Review for STR: ATXN7_CAG was set to GREEN Added comment: PMID: 27632585 (father of proband), this ARVO abstract ( https://iovs.arvojournals.org/article.aspx?articleid=2768575) and cases from our clinical cohort, demonstrate that affected individuals can present with a seemingly isolated maculopathy or cone-rod dystrophy that precedes the onset of neurological symptoms Sources: Literature |
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