Articles with "congenital aniridia" as a keyword



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Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy.

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Published in 2018 at "American journal of ophthalmology"

DOI: 10.1016/j.ajo.2017.10.017

Abstract: PURPOSE To clinically characterize and compare 2 types of corneal abnormalities in patients with congenital aniridia: (1) congenital central corneal opacity from birth (CCO) and (2) aniridia-associated keratopathy (AAK) that develops progressively with age. DESIGN… read more here.

Keywords: corneal; corneal abnormalities; age; aniridia congenital ... See more keywords
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Management of Congenital Aniridia-Associated Keratopathy: Long-Term Outcomes from a Tertiary Referral Center.

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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
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[Congenital aniridia - Hungarian data of a spectrum disease].

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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
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Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract

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Published in 2018 at "Molecular Medicine Reports"

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
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A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene

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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