Management of Congenital Aniridia-Associated Keratopathy: Long-Term Outcomes from a Tertiary Referral Center.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2019.11.003
Abstract: PURPOSE To report the outcomes of medical and surgical management for congenital aniridia-associated keratopathy (AAK) over a long follow-up period. DESIGN Retrospective, comparative case series METHODS: Medical records of patients diagnosed with congenital aniridia were… read more here.
Keywords: associated keratopathy; aniridia; aniridia associated; congenital aniridia ... See more keywords
Gillespie syndrome: An atypical form and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Medicine and Surgery"
DOI: 10.1016/j.amsu.2022.103244
Abstract: Introduction Gillespie syndrome (GS) is a rare genetic disorder that combines ocular and cerebral defects. It was first described in 1965, by Frederick D. Gillespie. He reported a triad of congenital aniridia, cerebellar ataxia and… read more here.
Keywords: gillespie; aniridia; form review; atypical form ... See more keywords
[Congenital aniridia - Hungarian data of a spectrum disease].
Sign Up to like & getrecommendations! Published in 2023 at "Orvosi hetilap"
DOI: 10.1556/650.2023.32697
Abstract: INTRODUCTION Congenital aniridia is a rare disease, characterised by the complete or partial absence of the iris, but lesions may be present in all structures of the eye. OBJECTIVE To determine the prevalence of ocular… read more here.
Keywords: disease; eyes patients; aniridia; grade eyes ... See more keywords
Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23126690
Abstract: Genome-wide sequencing metadata allows researchers to infer bias in the relative frequencies of mutational events and to predict putative mutagenic models. In addition, much less data could be useful in the evaluation of the mutational… read more here.
Keywords: mutational events; human genome; relative frequencies; small indels ... See more keywords
Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract
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DOI: 10.3892/mmr.2018.9469
Abstract: Congenital aniridia is a rare genetic disorder characterized by a variable degree of hypoplasia or absence of iris. It is frequently associated with keratopathy, cataract, juvenile-onset glaucoma and foveal and optic nerve hypoplasia. Mutations in… read more here.
Keywords: aniridia cataract; aniridia; classic congenital; congenital aniridia ... See more keywords
A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_433_22
Abstract: Congenital aniridia is characterized by partial or complete absence of the iris.[1] The disease manifestations extend to almost every part of the eye, including the cornea, anterior chamber angle, lens, fovea, and the optic nerve.[2]… read more here.
Keywords: case congenital; rare case; unusual run; aniridia ... See more keywords