VSX2 gene

Overview

Gene (OMIM No.)	VSX2 (#142993)
Function of gene/protein	Crucial in early development of the neuroretina Regulates other genes by binding to specific DNA regions (transcription factor)
Clinical phenotype (OMIM phenotype no.)	Microphthalmia with coloboma 3 (#610092) Microphthalmia, isolated 2 (#610093)
Inheritance	Autosomal recessive
Ocular features	Microphthalmia with coloboma 3: Microphthalmia, anophthalmia, coloboma (MAC) spectrum Congenital cataracts Microcornea Microphthalmia, isolated 2: Microphthalmia, anophthalmia, coloboma (MAC) spectrum
Systemic features	Uncommon but a number of cases were reported to have: Neurodevelopmental disorders Cryptorchidism Ovarian defects
Key investigations	B-scan USS to measure axial length to document microphthalmia and detect any posterior abnormalities in congenital cataract cases Electrophysiology TORCH screen for children with congenital cataract MRI brain and orbit Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Management of congenital cataract Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

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Updated on November 30, 2020