An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
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BRIEF DESCRIPTION
Stargardt-like diseases are retinal diseases that are similar to Stargardt disease (STGD1) but are inherited in an autosomal dominant pattern. Mutations in the ABCA4 gene can cause a wide range of retinal diseases, including STGD, with varying degrees of severity:
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Cone-rod dystrophy: A vision disorder that can cause loss of visual sharpness, increased sensitivity to light, and impaired color vision. These symptoms can worsen over time.
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Retinitis pigmentosa: A disease with a severe phenotype that can include a flat electroretinogram and absent ABCA4 function.
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Bull's eye maculopathy: A phenotype associated with ABCA4-associated retinopathies.
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