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 a-
catenin protein) were associated with butterflyshaped pigment dystrophy: c. 953T/C(p.
Leu318Ser), c. 1293T/G (p. Ile431Met), and c. 919G/A (p. Glu307Lys). 1 Herein, we describe …
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 a-
catenin protein) were associated with butterflyshaped pigment dystrophy: c. 953T/C(p.
Leu318Ser), c. 1293T/G (p. Ile431Met), and c. 919G/A (p. Glu307Lys). 1 Herein, we describe …