A novel dominant CRX mutation causes adult-onset macular dystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2017.1373831
Abstract: ABSTRACT Background: To present the ophthalmological findings of a mother and son initially diagnosed with benign concentric annular macular dystrophy (BCAMD) and later discovered to carry a novel nonsense mutation in the cone-rod homeobox (CRX)… read more here.
Keywords: onset macular; adult onset; dystrophy; crx ... See more keywords
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2092758
Abstract: ABSTRACT Background MFSD8 mutations can cause type 7 neuronal ceroid lipofuscinosis, a systemic disorder that includes vision loss; however, such mutations can also cause isolated retinal dystrophy with vision loss without systemic signs or symptoms… read more here.
Keywords: dystrophy; causing non; macular dystrophy; adult onset ... See more keywords
Atypical choroideremia presenting with early‐onset macular atrophy
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DOI: 10.1111/aos.14025
Abstract: Choroideremia is an X‐linked recessive retinal degeneration predominantly affecting hemizygous males. It is caused by mutations in the CHM gene that encodes the Rab escort protein‐1. Characteristic features include early nyctalopia followed by progressive constriction… read more here.
Keywords: atypical choroideremia; presenting early; choroideremia; early onset ... See more keywords