About 230 results

ALLMedicine™ Anterior Segment Dysgenesis Center

Research & Reviews  91 results

EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia.
European Journal of Medical Genetics; Cécile C, Anna G et. al.

Aug 3rd, 2022 - Disruption of any of the ocular development steps can result in ocular defects such as microphthalmia, coloboma and anterior segment dysgeneses including aniridia and cataract. All of these anomalies can be isolated or seen in association with eac...

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening o...
Clinical Genetics; Chesneau B, Aubert-Mucca M et. al.

Feb 17th, 2022 - Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP1B1). Some copy numbe...

Anterior megalophthalmos in sisters with Witteveen-Kolk syndrome.
Journal of AAPOS : the Official Publication of the Americ... Jacobson A, Bohnsack BL

Feb 11th, 2022 - Anterior megalophthalmos is a form of anterior segment dysgenesis characterized by megalocornea (>12.5 mm) coupled with an enlarged lens-iris diaphragm and ciliary body ring. Importantly, intraocular pressure (IOP) is normal, and in contrast to bu...

Case report of the rare Peters' anomaly complicated with Axenfeld-Rieger syndrome: A ca...
Medicine Meng Y, Lu G et. al.

Jan 15th, 2022 - Peters' anomaly (PA) and Axenfeld-Rieger syndrome (ARS) are typical classifications of anterior segment dysgenesis (ASD) and ascribed to congenital eye diseases that encompass developmental defects in anterior segment structures. The aim of this s...

Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgen...
European Journal of Ophthalmology; Magan T, Tanner A et. al.

Jan 11th, 2022 - To determine the long-term outcomes of a cohort of complex patients with primary congenital glaucoma, aniridia and anterior segment dysgenesis. Retrospective consecutive series between 1990-2021 in two UK tertiary centres: Guy's and St Thomas' NHS...

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News  1 results

A 7-Month-Old Boy With Photophobia

Jan 19th, 2011 - Clinical Presentation A 7-month-old boy with no past medical history was brought to the emergency department by his parents because they noticed that he had been tearing and had trouble looking at bright lights for the past 3 months. He squeezes b...

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