To describe a case of bilateral microphthalmia associated with neonatal hepatitis caused by mutations in the VSX2 gene. A literature review of previous reported cases of microphthalmia due to VSX2 mutations will highlight the systemic phenotypic variability of this genetic abnormality which has implications for genetic counselling.

Case report with details of genetic analysis and phenotype.

Our case was noted at birth to have severe microphthalmia with axial lengths of 7.1mm and 8.0mm; the baby was born to consanguineous parents of Pakistani origin. In addition to the micropthalmia the child has unexplained neonatal hepatitis- despite extensive investigations including liver biopsy. Genetic testing revealed a homozygous missense mutation (c679C>T) of VSX2 gene (visual system homeobox 2). The same genotype has been previously described in a distant family member also born to consanguineous parents; in this case the microphthalmia, was associated with profound hearing impairment, low muscle tone and severe learning difficulties. The only other reported case of this genotype is in 2 sisters of Iranian origin with microphthalmia and no extraocular features. This case highlights the systemic phenotypic variability in cases with recognized genetic mutations – this has important implications for genetic counselling.

This is the second reported case of VSX2 mutation causing bilateral severe microphthalmia and the first reported case with this constellation of systemic features.