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2021 | 1 |
2023 | 2 |
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Posterior Segment Involvement in Infantile Nephropathic Cystinosis - A Review.
Klin Monbl Augenheilkd. 2023 Mar;240(3):266-275. doi: 10.1055/s-0037-1599653. Epub 2023 Mar 28.
Klin Monbl Augenheilkd. 2023.
PMID: 36977427
Review.
English.
Cystine crystals deposited in the cornea are a clinical hallmark of the disease, while there is less awareness of concomitant posterior segment alterations. Symmetrical pigment epithelial mottling and patches of depigmentation frequently start in the peripher …
Cystine crystals deposited in the cornea are a clinical hallmark of the disease, while there is less awareness of concomitant posterior segm …
Birt-Hogg-Dubé syndrome associated with chorioretinopathy and nyctalopia: a case report and review of the literature.
Konstantinou EK, Shaikh N, Ramsey DJ.
Konstantinou EK, et al.
Ophthalmic Genet. 2023 Apr;44(2):175-181. doi: 10.1080/13816810.2021.1961281. Epub 2021 Aug 6.
Ophthalmic Genet. 2023.
PMID: 34353225
Review.
RESULTS: A 55-year-old woman presented with longstanding nyctalopia attributed to a congenital retinal dystrophy, but no prior genetic testing. Her posterior pole examination demonstrated retinal pigment epithelium (RPE) mottling with extensive macular …
RESULTS: A 55-year-old woman presented with longstanding nyctalopia attributed to a congenital retinal dystrophy, but no prior geneti …
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