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Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
Lin S, Robson AG, Thompson DA, Stepien KM, Lachmann R, Footitt E, Czyz O, Chandrasekhar S, Schiff E, Iosifidis C, Black GC, Michaelides M, Mahroo OA, Arno G, Webster AR. Lin S, et al. Among authors: mahroo oa. Clin Genet. 2024 Oct;106(4):505-511. doi: 10.1111/cge.14573. Epub 2024 Jun 11. Clin Genet. 2024. PMID: 38863195 Free PMC article.
Electronegative ERG or pseudo-negative ERG?
Holder GE, Mahroo O. Holder GE, et al. Doc Ophthalmol. 2022 Dec;145(3):283-286. doi: 10.1007/s10633-022-09881-z. Epub 2022 Sep 23. Doc Ophthalmol. 2022. PMID: 36149542 No abstract available.
Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes.
Khan KN, Mahroo OA, Khan RS, Mohamed MD, McKibbin M, Bird A, Michaelides M, Tufail A, Moore AT. Khan KN, et al. Among authors: mahroo oa. Prog Retin Eye Res. 2016 Jul;53:70-106. doi: 10.1016/j.preteyeres.2016.04.008. Epub 2016 May 10. Prog Retin Eye Res. 2016. PMID: 27173377 Review.
168 results