Peters' anomaly associated with partial deletion of the long arm of chromosome 11.
A 5-week-old boy with Peters' anomaly was found to have an interstitial deletion of the long arm of chromosome 11; no developmental delays or dysmorphic features were evident. His right cornea was enlarged and opaque with extensive pannus formation; the anterior chamber, iris, and lens were not visible. The left eye showed a central opacity and a superficial pannus; the optic disk and macula could not be visualized. He underwent bilateral corneal transplantation. Histologic examination of the corneal buttons confirmed the diagnosis. The potential genetic mechanisms in this case included a gene for this autosomal recessive disorder on the long arm of chromosome 11, generalized disruption of the embryogenesis of the anterior segment as a result of the deleted material, or simple autosomal recessive inheritance unrelated to the chromosomal deletion.
D002869:Chromosome Aberrations / Q000150:complications / Q000235:genetics*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003318:Corneal Opacity / Q000151:congenital / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male