ALLMedicine™ Anterior Segment Dysgenesis Center

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...

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...

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...

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...

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...

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...