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A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

17 Jul 2020

Abstract excerpt

PURPOSE: To describe the clinical and electrophysiological features of adult-onset macular dystrophy, due to novel combinations of CDHR1 alleles, and compare the associated phenotypes with previous reports. METHODS: The clinical records of patients with macular dystrophy and biallelic variants in CDHR1 were reviewed. Data analysed included best corrected visual acuity (BCVA), fundus images: autofluorescence (AF)...

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PMID: 32681094
DOI: 10.1038/s41433-020-1045-3

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