Abstract
Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy
Highlights
Electronic patient records from Moorfields Eye Hospital, London, United Kingdom, and Manchester Centre for Genomic Medicine, Manchester, United Kingdom, were inspected to identify individuals with inherited retinopathy associated with variants in CTNNA1
We identified 11 affected patients (8 female) from 6 unrelated families
The proband from family 1 was a 43-year-old woman with mild symptoms, including difficulty driving in low light levels
Summary
2. Age-Related Eye Disease Study Research Group. Macular pattern dystrophies of the retinal pigment epithelium have various causes and effects on vision, with abnormalities evident on short-wavelength autofluorescence imaging. Electronic patient records from Moorfields Eye Hospital, London, United Kingdom, and Manchester Centre for Genomic Medicine, Manchester, United Kingdom, were inspected to identify individuals with inherited retinopathy associated with variants in CTNNA1. The study had review board approval (Moorfields Eye Hospital R&D department and North London and Greater Manchester West Research Ethics Committees) and conformed to the tenets of the Declaration of Helsinki.
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