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Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

Year: 2020
Type: article
Study design: Case Report
Abstract: 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 (p.Ile431Met), and c.919G→A (p.Glu307Lys).1 Herein, we describe 6 additional families with CTNNA1 missense variants (affected individuals exhibiting pattern dystrophy), corroborating the previous report.
DOI: 10.1016/j.ophtha.2020.10.032
Authors: Alexander Tanner, Hwei Wuen Chan, Jose S. Pulido, Gavin Arno, Rola Ba-Abbad, Neringa Jurkute, Anthony G. Robson, Catherine A. Egan, Hannah Knight, Antonio Calcagni, Rachel L. Taylor, Eva Lenassi, Graeme C. Black, Anthony T. Moore, Michel Michaelides, Andrew R. Webster, Omar A. Mahroo
Institutions: Moorfields Eye Hospital NHS Foundation Trust, Moorfields Eye Hospital, University College London, National University Hospital, Wills Eye Hospital, University of Manchester, St Mary's Hospital, University of California, San Francisco, St Thomas' Hospital, King's College London, University of Cambridge
Language: English
Subfield: Ophthalmology
Field: Medicine
Open Access status: hybrid
Estimated APC paid: $3,300
Funders: Wellcome Trust, King's College London, University College London, Moorfields Eye Hospital NHS Foundation Trust, Directorate for Biological Sciences, University of California, San Francisco, Medical Research Council, UCL Institute of Ophthalmology, University College London
OpenAlex ID: W3096794797
FWCI: 1.597
Cites: 6
Cited by: 17
Related to: 10