A Review of Achromatopsia Volume 3 - Issue 1

Sandra Abeijón Martínez*

• School of Advanced Education, Research and Accreditation (SAERA)

Received:September 02, 2020;   Published: September 21, 2020

Corresponding author: Sandra Abeijón Martínez, School of Advanced Education, Research and Accreditation (SAERA)

DOI: 10.32474/TOOAJ.2020.03.000154

 

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Abstract

Congenital achromatopsia is a hereditary form of day blindness caused by cone photoreceptor dysfunction, with an incidence of approximately 1 in 30,000. This inherited disorder is characterized by a lack of color discrimination, nystagmus, photophobia, and low visual acuity (< 0.2). The most typical genetic mutations are autosomal recessive changes in CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, or ATF6. It should not be confused with cerebral achromatopsia, which is an acquired form of total color blindness that can result from illness, trauma, or some other cause. Color plays an essential role in our lives. It can change actions, influence thinking, and cause reactions. As a powerful type of communication, color is irreplaceable. Green means “go” and red means “stop”. Traffic lights send this global meaning. Color vision deficiency, creates challenges in the daily lives of those who have an insufficient visual sense.

Purpose: The aim of this review is to examine the literature published on achromatopsia and summarize the diagnosis, management, genetic characteristics, and the recent advances in gene therapy.

Conclusions: Congenital achromatopsia is a complex inherited disease. Management of achromatopsia is multifaceted. There is currently no cure for achromatopsia, although gene therapy is a therapeutic option already being studied in clinical trials. The most recent study in human adults can be classified as safe and positive in terms of efficacy.

Keywords: Achromatopsia (ACHM); Gene therapy

Abstract| Introduction| Objectives| Method of literature search| Results| Discussion| Conclusion| References|