An overview of the genetics of ABCA4 retinopathies, an evolving story
Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes an importer flippase protein that prevents the build-up of vitamin A derivatives that are toxic to the RPE. Diagnosing ABCA4R is...
| Main Authors: | , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
MDPI
2021
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