Early-Onset Stargardt Disease Caused by Homozygosity of a Complex <italic>ABCA4</italic> Allele from Eastern Africa: Two Case Reports

<p>Introduction: Biallelic pathogenic variants in the ABCA4 gene are the leading cause of inherited retinal diseases. Over 1,200 pathogenic or likely pathogenic ABCA4 variants have been reported, resulting in a broad clinical spectrum of ABCA4-retinal dystrophies (ABCA4-RD), with Stargard...

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Detalhes bibliográficos

Principais autores:	Sigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, Ingvild Aukrust, Cecilie Bredrup, Marte Innselset Flydal, Adam P. DeLuca, Jeaneen L. Andorf, Edwin M. Stone, Per Morten Knappskog
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Karger Publishers 2025-09-01
coleção:	Case Reports in Ophthalmology
Acesso em linha:	https://karger.com/article/doi/10.1159/000547387
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