About 175 results

ALLMedicine™ Anterior Segment Dysgenesis Center

Research & Reviews  69 results

The utility of genomic testing in the ophthalmology clinic: A review.
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...

Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenoty...
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 ...

Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
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...

Progressive Loss of Retinal Ganglion Cells in Activating Protein-2β Neural Crest Cell K...
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)...

Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional r...
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 ...

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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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