Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4

Ophthalmic Genet. 2009 Sep;30(3):136-41. doi: 10.1080/13816810903085263.

Abstract

Congenital grouped pigmentation of the retinal pigment epithelium (CGPRPE) is a rare ocular abnormality that has been described as an isolated finding or in conjunction with a few systemic conditions. We present the case of a patient with CGPRPE who also has microcephaly, intrauterine growth retardation, mild developmental delay, and deletions of 13q33.3-q34 and 11p15.4. We believe this represents a distinct syndrome in which CGPRPE and microcephaly are the predominant features and that the responsible gene possibly resides in one of the deleted chromosomal regions.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 13 / genetics*
  • Humans
  • Male
  • Microcephaly / genetics*
  • Retinal Diseases / genetics*
  • Retinal Pigment Epithelium / pathology*