Article Text

Download PDFPDF
Childhood retinal dystrophies: what's in a name?
  1. Elias I Traboulsi
  1. Correspondence to Dr Elias I Traboulsi, Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, i32, 9500 Euclid Avenue, Cleveland, OH 44195, USA; traboue{at}

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

The multiplicity of underlying genetic defects in childhood retinal dystrophies has become evident in the last two decades. A traditional clinical diagnostic label is easy to assign when the phenotype is clear-cut and matches the original delineation of the dystrophy; this continues to be feasible in most cases, but may be quite difficult in the absence of a molecular diagnosis, especially when the phenotype is on the atypical end of a spectrum. Leber congenital amaurosis (LCA), congenital stationary night blindness (CSNB), achromatopsia, and Stargardt disease are examples of conditions where these terminological conundrums arise.

Because of the limited signs and symptoms of retinal dystrophies, it is inevitable that some distinct genetically defined conditions will …

View Full Text


  • Funding Supported by an unrestricted grant from Research to Prevent Blindness.

  • Competing interests None.

  • Provenance and peer review Commissioned; internally peer reviewed.

Linked Articles