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About 240 results

ALLMedicine™ Anterior Segment Dysgenesis Center

Research & Reviews  95 results

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to i...
https://doi.org/10.1016/j.preteyeres.2022.101133
Progress in Retinal and Eye Research; Daruich A, Duncan M et. al.

Oct 25th, 2022 - Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively been shown to be associated with other developmental ocular abnormalities and systemic features making congenital aniridia a complex syndromic disorder...

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular an...
https://doi.org/10.1038/s41431-022-01195-7
European Journal of Human Genetics : EJHG; Mezad-Koursh D, Rosenfeld E et. al.

Oct 20th, 2022 - Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gene locat...

Primary aphakia: clinical recognition is the key to diagnosis.
https://doi.org/10.1016/j.jaapos.2022.07.012
Journal of AAPOS : the Official Publication of the Americ... Kaushik S, Snehi S et. al.

Oct 3rd, 2022 - To describe the presentation and treatment outcomes of a cohort of children with primary aphakia (PA). Clinical photographs and ultrasound biomicroscopy (UBM) images of children presenting with sclerocornea and undetermined anterior segment dysgen...

EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia.
https://doi.org/10.1016/j.ejmg.2022.104574
European Journal of Medical Genetics; Courdier C, Gemahling A 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...
https://doi.org/10.1111/cge.14123
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...

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News  1 results

A 7-Month-Old Boy With Photophobia
https://www.medscape.com/viewarticle/735197

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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