Retinal capillaritis in a CRB1-associated retinal dystrophy

Ophthalmic Genet. 2017 Dec;38(6):555-558. doi: 10.1080/13816810.2017.1281966. Epub 2017 Jan 27.

Abstract

Purpose: To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME).

Methods: A case report.

Results: An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations.

Conclusions: Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient.

Keywords: CRB1; retinal capillaritis; retinal dystrophy; retinitis pigmentosa; uveitis.

Publication types

  • Case Reports

MeSH terms

  • Capillaries / pathology
  • Child
  • Eye Diseases / diagnosis
  • Eye Proteins / genetics*
  • Fluorescein Angiography
  • Glucocorticoids / therapeutic use
  • Humans
  • Macular Edema / diagnosis
  • Male
  • Membrane Proteins / genetics*
  • Methylprednisolone / therapeutic use
  • Nerve Tissue Proteins / genetics*
  • Pulse Therapy, Drug
  • Retinal Dystrophies / diagnosis
  • Retinal Dystrophies / genetics*
  • Retinal Vasculitis / diagnosis*
  • Retinal Vessels / pathology
  • Tomography, Optical Coherence
  • Uveitis, Intermediate / diagnosis
  • Vitreous Body / pathology

Substances

  • CRB1 protein, human
  • Eye Proteins
  • Glucocorticoids
  • Membrane Proteins
  • Nerve Tissue Proteins
  • Methylprednisolone