Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

Macular pattern dystrophies of the retinal pigment epithelium have various causes and effects on vision, with abnormalities particularly evident on short-wavelength autofluorescence imaging. A number of genes have been implicated, frequently PRPH2. In 2015, 3 heterozygous missense variants in CTNNA1 (encoding the widely expressed α-catenin protein) were associated with butterfly-shaped pigment dystrophy: c.953T→C (p.Leu318Ser), c.1293T→G...