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ALLMedicine™ Aniridia Center

Research & Reviews  211 results

Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswere...
The Ocular Surface; Latta L, Figueiredo FC et. al.

Sep 15th, 2021 - Aniridia, a rare congenital disease, is often characterized by a progressive, pronounced limbal insufficiency and ocular surface pathology termed aniridia-associated keratopathy (AAK). Due to the characteristics of AAK and its bilateral nature, cl...

Congenital aniridia with ectopia lentis and unilateral buphthalmos: an unusual presenta...
BMJ Case Reports; Puthalath AS, Gupta N et. al.

Aug 19th, 2021 - Congenital aniridia with ectopia lentis and unilateral buphthalmos: an unusual presentation.|2021|Puthalath AS,Gupta N,Samanta R,Verma PK,|diagnosis,diagnosis,

New mutation in WT1 gene in a boy with an incomplete form of Denys-Drash syndrome: A CA...
Medicine Akramov NR, Shavaliev RF et. al.

Jun 10th, 2021 - Pediatric patients with WTl-associated syndromes (including Wilms' tumor-aniridia syndrome and Denys-Drash syndrome), Perlman syndrome, mosaic aneuploidy, and Fanconi anemia with a biallelic breast cancer type 2 susceptibility protein mutation hav...

Dysfunction of the limbal epithelial stem cell niche in aniridia-associated keratopathy.
The Ocular Surface; Schlötzer-Schrehardt U, Latta L et. al.

Jun 9th, 2021 - Abnormalities in the limbal niche microenvironment have been suggested to be causally involved in aniridia-associated keratopathy (AAK), but histological analyses on the limbal structure and composition in AAK are lacking. Here, we investigated mo...

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