About 263 results

ALLMedicine™ Anterior Segment Dysgenesis Center

Research & Reviews  104 results

Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and...
European Journal of Ophthalmology; Zhou L, Wang G et. al.

Mar 15th, 2023 - To report a family with severe ocular disorder caused by double gene variants in causative genes of autosomal dominant cataracts, GJA8 and CRYGC. A 5-month-old boy with poor vision and enophthalmos was referred to our hospital. Further ocular exam...

Commercial Gene Panels for Congenital Anterior Segment Anomalies: are they all the same?
American Journal of Ophthalmology; Villalba MF, Li CM et. al.

Mar 12th, 2023 - We compared next-generation sequencing multigene panels (NGS-MGP) from 5 commercial laboratories to inform the ophthalmologist's decision-making in diagnostic genetic testing for congenital anterior segment anomalies (CASA). Comparison of commerci...

Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Investigative Ophthalmology & Visual Science; Wang P, Wu P et. al.

Mar 10th, 2023 - Biallelic MAB21L1 variants have been reported to cause autosomal recessive cerebellar, ocular, craniofacial, and genital syndrome (COFG), whereas only five heterozygous pathogenic variants have been suspected to cause autosomal dominant (AD) micro...

Peters Anomaly: Novel Non-Invasive Alternatives to Penetrating Keratoplasty.
Seminars in Ophthalmology; Rajagopal RN, Fernandes M

Feb 16th, 2023 - Peters' anomaly (PA) is the most commonly encountered congenital corneal opacity (CCO) and displays a wide phenotypical range. The relatively recent adoption of high-quality anterior segment imaging in the form of high-frequency ultrasound biomicr...

Expanding the mutational spectrum of FHONDA syndrome.
Ophthalmic Genetics; Shoji MK, Khodeiry MM et. al.

Feb 8th, 2023 - The aim of the study is to present a rare case of Foveal Hypoplasia, Optic Nerve Decussation defects, and Anterior segment dysgenesis (FHONDA) confirmed by genetic testing with two separate pathogenic mutations in the SLC38A8 gene. This was a case...

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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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