A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism

Ophthalmic Genet. 1995 Dec;16(4):163-9. doi: 10.3109/13816819509057858.

Abstract

Six members of a family presented with a syndrome of mild facial dysmorphism, subluxation of the crystalline lenses, variable degrees of angle closure by iridocorneal adhesions, and patchy areas of iris atrophy. Three nonoperated eyes of two patients had spontaneous filtering blebs that presented as avascular cystic elevations of the superior conjunctiva. Systemic workup of all patients was negative for evidence of diseases known to be associated with dislocated lenses. The pedigree is most compatible with autosomal recessive inheritance with pseudodominance.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Anterior Eye Segment / abnormalities
  • Aqueous Humor / metabolism*
  • Ectopia Lentis / genetics*
  • Ectopia Lentis / pathology
  • Ectopia Lentis / surgery
  • Facial Bones / abnormalities*
  • Facial Bones / pathology
  • Female
  • Glaucoma, Angle-Closure / genetics*
  • Glaucoma, Angle-Closure / pathology
  • Glaucoma, Angle-Closure / surgery
  • Humans
  • Intraocular Pressure
  • Lens, Crystalline / surgery
  • Male
  • Pedigree
  • Skull / abnormalities*
  • Skull / pathology
  • Syndrome
  • Vitrectomy