Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

Am J Med Genet. 1997 Oct 17;72(2):227-36. doi: 10.1002/(sici)1096-8628(19971017)72:2<227::aid-ajmg19>;2-p.


Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression is evident and more recently recognized manifestations include a complete spectrum of eye involvement, impairment of extraocular movement, mid-frequency sensorineural hearing loss, and hematuria. Learning difficulties requiring remedial teaching were present in one third of those affected and a neural tube defect has occurred in one presumed affected member. This family appears to present a unique phenotype, which provides an opportunity to identify a genetic locus involved in eye, ear, renal, primary palate, and brain development.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Coloboma / genetics
  • Female
  • Genes, Dominant*
  • Hearing Loss, Sensorineural / genetics
  • Hematuria / genetics
  • Humans
  • Male
  • Microphthalmos / genetics
  • Middle Aged
  • Pedigree
  • Syndrome