Article

Clinical characterisation and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7

2020-06-12

Abstract excerpt

<title>Abstract</title> <p>Purpose To evaluate the retinal phenotype and genetic features of Chinese patients with spinocerebellar ataxia type 7 (SCA7). Methods Detailed ophthalmic examinations, including electroretinograms, fundus photography, fundus autofluorescence and optical coherence tomography, were performed to analyse the retinal lesions of patients with SCA7. A molecular genetic analysis was completed...

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Literature Corpus work: 76ae5d71-bc1e-5fd9-bea9-c5c568d31e08
DOI: 10.21203/rs.3.rs-34275/v1

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