VSX2 gene


Gene (OMIM No.)
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)
  • Autosomal recessive
Ocular featuresMicrophthalmia with coloboma 3:Microphthalmia, isolated 2:
  • Microphthalmia, anophthalmia, coloboma (MAC) spectrum
Systemic featuresUncommon 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 diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  De Chen, J, Bapat, B, Bascom, R, et al. Identification of a developmentally regulated human retinal homeobox gene. (Abstract) Am. J. Hum. Genet. 1989;45: A111
  2.  Kohn G, el Shawwa R, el Rayyes E. Isolated “clinical anophthalmia” in an extensively affected Arab kindred. Clin Genet
  3.  Percin, E. F., Ploder, L. A., Yu, J. J., Arici, K., Horsford, D. J., Rutherford, A., Bapat, B., Cox, D. W., Duncan, A. M. V., Kalnins, V. I., Kocak-Altintas, A., Sowden, J. C., Traboulsi, E., Sarfarazi, M., McInnes, R. R. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nature Genet. 2000;25: 397-401
  4.  Chassaing N, Causse A, Vigouroux A, et al. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Clin Genet 2014;86(4):326‐334
  5.  Williamson KA, FitzPatrick DR. The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet. 2014;57(8):369‐380
  6.  Slavotinek AM. Eye development genes and known syndromes. Mol Genet Metab. 2011;104(4):448‐456

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Updated on November 30, 2020
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