Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication

Hereditary macular dystrophies (HMDs) are a genetically diverse group of disorders that cause central vision loss due to photoreceptor and retinal pigment epithelium (RPE) damage. We investigated a family with a presumed novel autosomal-dominant HMD characterized by faint, hypopigmented RPE changes...

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Autores principales:	Rabiat Adele, Rowaida Hussein, Erika Tavares, Kashif Ahmed, Matteo Di Scipio, Jason Charish, Minggao Liang, Simon Monis, Anupreet Tumber, Xiaoyan Chen, Tara A. Paton, Nicole M. Roslin, Christabel Eileen, Evgueni Ivakine, Nishanth E. Sunny, Michael D. Wilson, Eric Campos, Raju V.S. Rajala, Jason T. Maynes, Philippe P. Monnier, Andrew D. Paterson, Elise Héon, Ajoy Vincent
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	American Society for Clinical investigation 2024-12-01
Colección:	JCI Insight
Materias:	Genetics Ophthalmology
Acceso en línea:	https://doi.org/10.1172/jci.insight.178768
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