ALLMedicine™ Anterior Segment Dysgenesis Center
Research & Reviews 69 results
Clinical & Experimental Ophthalmology; Burdon KP
Jul 8th, 2021 - Genomic testing assesses many genes in one test. It is often used in the diagnosis of heterogeneous single gene disorders where pathogenic variation in one of many genes are known to cause similar phenotypes, or where a clinical diagnosis is diffi...
Ophthalmic Genetics; Zhu AY, Costain G et. al.
May 15th, 2021 - Since bi-allelic variants in the PXDN gene were first discovered in 2011 to be associated with anterior segment dysgenesis, a spectrum of ophthalmologic and systemic clinical manifestations has been described. This manuscript reports two distinct ...
Pigment Cell & Melanoma Research; Fernández A, Hayashi M et. al.
May 8th, 2021 - Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. There are non-syndromic and s...
Current Eye Research; Taiyab A, Saraco A et. al.
Mar 11th, 2021 - Purpose: Our lab has shown that conditionally disrupting the transcription factor activating protein 2β (Tfap2b) gene, responsible for the activating protein-2β (AP-2β) transcription factor, exclusively in cranial neural crest cells (AP-2β NCC KO)...
Ophthalmic Genetics; Wu F, Goldenberg PC et. al.
Feb 24th, 2021 - Background: Multiple congenital anomalies-hypotony-seizures syndrome 3 (MCAHS3) is a rare autosomal recessive disorder caused by mutations in the PIGT gene. PIGT encodes phosphatidylinositol-glycan biosynthesis class T, which plays a crucial role ...
News 1 results
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...