Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation

J AAPOS. 2011 Jun;15(3):311-3. doi: 10.1016/j.jaapos.2011.03.008.

Abstract

Bilateral preretinal and vitreous hemorrhages in infants are rare and can present a diagnostic challenge, with nonaccidental trauma included in the differential diagnosis. We present the case of a 4-week-old boy in which a Pierre Robin sequence and a positive family history led to the clinical diagnosis of Stickler syndrome, which was confirmed by the identification of a disease-causing novel deletion of 2 nucleotides in the COL2A1 gene. This early association with Stickler syndrome has not been described previously.

Publication types

  • Case Reports

MeSH terms

  • Arthritis / diagnosis
  • Arthritis / genetics*
  • Collagen Type II / genetics*
  • Connective Tissue Diseases / diagnosis
  • Connective Tissue Diseases / genetics*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Pierre Robin Syndrome / diagnosis
  • Pierre Robin Syndrome / genetics
  • Polymerase Chain Reaction
  • Retinal Detachment / diagnosis
  • Retinal Detachment / genetics*
  • Retinal Hemorrhage / diagnosis
  • Retinal Hemorrhage / genetics
  • Retinal Hemorrhage / surgery
  • Vitrectomy
  • Vitreous Hemorrhage / diagnosis
  • Vitreous Hemorrhage / genetics*
  • Vitreous Hemorrhage / surgery

Substances

  • COL2A1 protein, human
  • Collagen Type II

Supplementary concepts

  • Stickler syndrome, type 1