Congenital bilateral severe microphthalmia with mental retardation and cerebral palsy: chromosome aberration, 46, XY, t (2;6)(q31;q24).

Congenital bilateral anophthalmia and microphthalmia are rare conditions, with overall prevalence in one study set at 1.0 per 10,000 births. We report here a case of congenital bilateral severe microphthalmia with mental retardation and cerebral palsy. The patient was man aged 38 years with a chromosome aberration, namely a balanced translocation: 46, XY, t (2;6)(q31;q24). He had no other malformations apart from the severe microphthalmia. CT of the head showed no significant abnormal findings in the brain, but rudimentary eyeballs and external ocular muscles in the bilateral orbits. There was no family history of anophthalmia, microphthalmia, mental retardation or cerebral palsy. His mother had not used any medications or excessive alcohol during gestation. Putative genes of anophthalmia and microphthalmia reported to date include PAX6 (Glaser T et al 1994) and CHX10 (Ferda Percin E et al 2000). Further, some loci of these conditions have been reported (Graham CA et al 1991; Bessant DAR et al 1998; Morle L et al 2000: Forrester S et al 2001: Ng D et al 2002). To our knowledge, however, this is the first report of nonsyndromic microphthalmia or anophthalmia with chromosome 2q31 or 6q24 aberration. We consider that the putative gene may be located on the brake points of chromosome 2 and 6.