DISTINCTIVE WHITE FUNDUS LESIONS IN FAMILIAL EXUDATIVE VITREORETINOPATHY: A NEWLY CHARACTERIZED CLINICAL FEATURE

Retin Cases Brief Rep. 2017 Fall;11(4):291-295. doi: 10.1097/ICB.0000000000000375.

Abstract

Purpose: To report a novel clinical finding associated with familial exudative vitreoretinopathy in three patients using fundus photography, fluorescein angiography, and histopathology.

Methods: Observational case series of three patients with familial exudative vitreoretinopathy, an ophthalmic examination with fundus photography, and fluorescein angiography were used to document clinical findings between January 2007 and January 2015. Surgical specimens from one case were examined using standard histopathologic techniques, as well as transmission electron microscopy and energy dispersive x-ray analysis.

Results: Distinctive white preretinal granules were noted in all cases and were found to be extramacular in location. Histopathology in one case revealed the granules to be crystalline structures with a regular pattern evident on higher magnification. The chemical constitution was found to be carbon, oxygen, and fluorine.

Conclusion: Our case series represents the first description of white preretinal granules in association with familial exudative vitreoretinopathy. The authors have not seen these granules in other forms of retinopathy and their presence may aid in differentiating this disease from other entities.

Publication types

  • Case Reports
  • Observational Study

MeSH terms

  • Child
  • Eye Diseases, Hereditary
  • Familial Exudative Vitreoretinopathies
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Infant
  • Male
  • Retinal Diseases / diagnostic imaging
  • Retinal Diseases / pathology*

Supplementary concepts

  • Familial Exudative Vitreoretinopathy