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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