Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature

J Pediatr Ophthalmol Strabismus. 2018 Mar 1;55(2):85-92. doi: 10.3928/01913913-20171117-01. Epub 2017 Dec 19.


Achromatopsia is a complex inherited retinal disease that affects the cone cell function. It is usually an autosomal-recessive disease and is characterized by pendular nystagmus, poor visual acuity, lack of color vision, and marked photophobia. CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6 gene mutations have been identified as associated with this disease. New diagnostic and therapeutic tools are being studied. Optical coherence tomography and fundus autofluorescence are important imaging techniques that provide significant information about the progression of the disease. The genetic approach for these patients is a current important issue and gene therapy is an ongoing therapeutic option already being studied in clinical trials. The purpose of this review was to survey the current knowledge on diagnosis and treatment options in achromatopsia. [J Pediatr Ophthalmol Strabismus. 2018;55(2):85-92.].

Publication types

  • Review

MeSH terms

  • Color Vision / physiology*
  • Color Vision Defects* / diagnosis
  • Color Vision Defects* / physiopathology
  • Color Vision Defects* / therapy
  • Disease Management*
  • Electroretinography / methods*
  • Fluorescein Angiography / methods*
  • Fundus Oculi
  • Humans
  • Phenotype
  • Retinal Cone Photoreceptor Cells / pathology*
  • Tomography, Optical Coherence / methods*

Supplementary concepts

  • Achromatopsia 1