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Article

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

Journal of pediatric ophthalmology and strabismus - 1 Mar 2018

Pascual-Camps Isabel, Barranco-Gonzalez Honorio, Aviñó-Martínez Juan, Silva Eduardo, Harto-Castaño Miguel

Abstract excerpt

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....

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Source

Identifiers

PMID: 29257187
DOI: 10.3928/01913913-20171117-01

Genes

ATF6
CNGA3
CNGB3
GNAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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