A Review of Achromatopsia

 

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

Introduction

Achromatopsia is a condition characterized by a partial or total absence of color vision [1]. People with complete achromatopsia cannot perceive any colors; they only see white, black, and shades of gray. Incomplete achromatopsia is a milder form of the disease that allows some color discrimination [1]. Oliver Sacks, in The Case of Color-blind Painter [2], transcribe the disturbing story of one of his cerebral achromatopsia patients after a car accident in the following way: Mr. I. could hardly tolerate the changed aspects of people (“like animated grey statues”) any more than he could tolerate his own appearance in the mirror: he shunned social intercourse and found sexual intercourse impossible. He saw people’s fesh, his wife’s fesh, his own fesh, as an abhorrent grey; “fesh-colored” now appeared “rat-colored” to him.

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