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-Report on Experiments and Clinical Cases-
Congenital Bilateral Severe Microphthalmia with Mental Retardation and Cerebral Palsy: Chromosome Aberration, 46, XY, t (2;6)(q31;q24)
1Department of Pediatrics, National Hospital Organization Fukushima Hospital
2Department of Pediatrics, Nippon Medical School
Congenital bilateral anophthalmia and microphthalmia are rare conditions, with overall prevalence in one study set at 1.0 per 10,000 births9. 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 19946) and CHX10 (Ferda Percin E et al 20005). Further, some loci of these conditions have been reported (Graham CA et al 19917; Bessant DAR et al 19983; Morle L et al 20004: Forrester S et al 20011: Ng D et al 20028). 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.
J Nippon Med Sch 2005; 72: 242-244
Keywords
chromosome aberration, anophthalmia, microphthalmia, mental retardation, cerebral palsy
Correspondence to
Tsunenori Hirayama, Department of Pediatrics, National Hospital Organization Fukushima Hospital, 13 Ashidatsuka, Sukagawa, Fukushima 962-8507, Japan
tunezou@fukushima.hosp.go.jp
Received, February 25, 2005
Accepted, April 1, 2005
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