Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

PURPOSE: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. OBSERVATION: The father was minimally symptomatic and referred by his optometrist aged 38. He was diagnosed with rod-cone dystrophy, confirmed t...

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Detalles Bibliográficos
Autores principales: Buckley, Thomas M.W., Cehajic-Kapetanovic, Jasmina, Shanks, Morag, Clouston, Penny, MacLaren, Robert E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650022/
https://www.ncbi.nlm.nih.gov/pubmed/36393903
http://dx.doi.org/10.1016/j.ajoc.2022.101698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650022/
https://www.ncbi.nlm.nih.gov/pubmed/36393903
http://dx.doi.org/10.1016/j.ajoc.2022.101698

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