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ABCA4

Disease Category: autosomal dominant

Treatment Options: None known

Patient Population: 

Strategies to Preserve Eye Health: None known

Active Clinical Trials: None at this time

Institution(s) Conducting Research:

A FACE OF RP

Image by Brandon Day

tbd

TBD

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:

  • 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.

  • Retinitis pigmentosa: A disease with a severe phenotype that can include a flat electroretinogram and absent ABCA4 function.

  • Bull's eye maculopathy: A phenotype associated with ABCA4-associated retinopathies. 

IN THE NEWS

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