Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Ophthalmology. 2009 Aug;116(8):1522-4. doi: 10.1016/j.ophtha.2009.02.032. Epub 2009 Jun 5.

Abstract

Purpose: To describe a patient with DiGeorge syndrome in association with familial exudative vitreoretinopathy (FEVR).

Design: Observational case report.

Participants: A newborn female and her parents.

Methods: Family members were examined by slit-lamp biomicroscopy and indirect ophthalmoscopy. Deletion mapping was performed by fluorescent in situ hybridization and genotyping. Mutation screening was undertaken by direct sequencing.

Main outcome measures: The presence or absence of a microdeletion on chromosome 22q11.2 in the patient and her parents and mutation screening of FZD4 and LRP5 in the patient.

Results: The patient had classical features of DiGeorge syndrome and FEVR. A de novo microdeletion on chromosome 22q11.2 was found in the patient, confirming the diagnosis of DiGeorge syndrome. No mutations were identified in the known FEVR genes.

Conclusions: Patients with DiGeorge syndrome should have a dilated retinal examination to look for signs of FEVR. Chromosome 22q11.2 may represent a novel locus for FEVR.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22 / genetics*
  • DNA Mutational Analysis
  • DiGeorge Syndrome / diagnosis
  • DiGeorge Syndrome / genetics*
  • Exudates and Transudates
  • Eye Diseases / diagnosis
  • Eye Diseases / genetics*
  • Female
  • Frizzled Receptors / genetics
  • Genotype
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • LDL-Receptor Related Proteins / genetics
  • Low Density Lipoprotein Receptor-Related Protein-5
  • Microscopy
  • Ophthalmoscopy
  • Receptors, G-Protein-Coupled / genetics
  • Retinal Neovascularization / diagnosis
  • Retinal Neovascularization / genetics*
  • Vitreous Body*

Substances

  • FZD4 protein, human
  • Frizzled Receptors
  • LDL-Receptor Related Proteins
  • LRP5 protein, human
  • Low Density Lipoprotein Receptor-Related Protein-5
  • Receptors, G-Protein-Coupled