A co-occurrence of familial isolated cherry red spot and multiple lens opacities

Eye (Lond). 2014 Mar;28(3):344-7. doi: 10.1038/eye.2013.271. Epub 2013 Dec 20.

Abstract

Purpose: To present a co-occurrence of familial isolated cherry red spot (CRS) and multiple lens opacities in all siblings from the same family without any other systemic or ocular diseases.

Methods: Four siblings from the same family had bilateral punctate lens opacities and bilateral CRS at the macula.

Results: The oldest one had left eye exotropia and amblyopia, otherwise the other siblings had no additional ocular findings. Systemic investigation, physical examination, and laboratory tests were within normal limits.

Conclusion: Bilateral isolated CRS along with punctate lens opacities were seen in all siblings from the same family without any systemic and ocular diseases.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amblyopia / diagnosis
  • Cataract / genetics*
  • Cataract / pathology
  • Child
  • Child, Preschool
  • Consanguinity
  • Exotropia / diagnosis
  • Female
  • Humans
  • Intraocular Pressure
  • Male
  • Retinal Diseases / genetics*
  • Retinal Diseases / pathology
  • Siblings
  • Visual Acuity / physiology