Patients with achromatopsia develop symptoms at birth, and the hallmark of this genetic disorder is a complete loss of color vision [9]. In some cases, color vision loss may be partial, while other symptoms include blurred vision, nystagmus, and photophobia, which may be particularly debilitating and can be accompanied by pain [10]. Frequent quivering or squinting may be signs of achromatopsia in infants and young children. Because of the non-progressive nature of the disease, symptoms are usually constant, they neither progress nor do they regress spontaneously.

• Painter

  Edit Storyline Landscape painter Jonathan is half way through his masterpiece when an accident leaves him literally color blind. Unable to move on, at night Jonathan dreams in color, where his vista is complete. [imdb.com]

  Kõige tuntum tserebraalse akromatopsia juhtum on Jonathan I. juhtum, mida kirjeldab Oliver Sacksi ja Robert Wassermani juhtumiuurimus "The Case of the Colorblind Painter". [glosbe.com]

  Especially pertinent is the analysis of how cerebral achromatopsia affects his practice as a painter and artist. I was born with an extremely rare eye condition known as achromatopsia nystagmus. [fr.bab.la]

  Especially pertinent is the analysis of how cerebral achromatopsia affects his practice as a painter and artist. Like akinetopsia, perception of color can also be selectively disturbed as in achromatopsia. [diki.pl]

  For example, electricians, painters, and fashion designers need to be able to see colors accurately. Call your provider or eye specialist if you think you (or your child) may have color blindness. [nlm.nih.gov]

• Pain

  Boils and carbuncles are generally inflamed, painful lumps. Compared with acne, boils are generally more painful, inflamed, and reddened around the border. Diagnosis Skin abscesses, boils, and related conditions are diagnosed by visual inspection. [livingnaturally.com]

  […] and hang out my dreams on my bed now I'm tying my senses and bleeding my back to the ground Nineteen hours from the last The last time i recall my breath Maybe now i'm really in test But nobody knows when I'll come Show me the truth I'll show you the pain [euphorbiapoa.bandcamp.com]

  Eye pain and homomymous hemianopsia. Am. J. Ophthalmol. 54: 1091–1093 (1962). PubMed Google Scholar Lapresle, J., Metrau, R. and Annabi, A. Transient achromatopsia in vertebrobasilar insufficiency. J. Neurol. 215: 155–158 (1977). [link.springer.com]

  Another is photophobia, or acute reactions to light – bright light is very painful and a person’s pupils may constrict in the opposite way to other people’s eyes, when the light levels change. [rnib.org.uk]

  In some cases, color vision loss may be partial, while other symptoms include blurred vision, nystagmus, and photophobia, which may be particularly debilitating and can be accompanied by pain. [symptoma.com]

• Weakness

  The homomeric channel consisting of the CNGA3 subunit with the p.M424V mutation had a weak cGMP-activated current in patch-clamp recordings. [ncbi.nlm.nih.gov]

  We have the red Of the same old blood And the gold From the things that were stolen But not the black Emptyness we touch We share the gray of indecision See the blue of sadness And the green of agony Track Name: Bloodhold Little ones Weak souls May you [euphorbiapoa.bandcamp.com]

  NH performed weaker on both versions of the panel D-15 test, with a strong tendency to make confusions along the tritan axis (indicating a weakness in S cone function; see below). [doi.org]

  However, due to methodological weakness of this research, further evidence is needed to confirm these results. Avoid if allergic or hypersensitive to bitter orange or any members of the Rutaceae family. [livingnaturally.com]

• Acquired Color Blindness

  Alternative Names of Achromatopsia are : Cerebral Achromatopsia, total color blindness, congenital cone dysfunction, color blindness total, day blindness, monochromatism, Rod monochromatism, Achromatopia. [whereincity.com]

  Cerebral achromatopsia is a form of acquired color blindness that is caused by damage to the cerebral cortex of the brain, rather than abnormalities in the cells of the eye's retina. [checkorphan.org]

• Pallor

  In one of the families 4 affected children (3 brothers and 1 sister) also showed pallor of the optic discs and marked astigmatism. The transmission of the disease was consistent with an autosomal recessive inheritance in both families. [ncbi.nlm.nih.gov]

• Photophobia

  The photophobia resulting from achromatopsia can be debilitating even in normal indoor illumination. Tinted contact lenses have been reported to reduce photophobia and improve visual function in these patients. Two cases are reported here. [ncbi.nlm.nih.gov]

  Some photophobia in indoor and low lighting settings. * Varying degrees of effects between achromats [noirmedical.com]

  Clinical findings Achromatopsia, nystagmus, amblyopia, photophobia, hemeralopia and pupillary irregularities. [medical-dictionary.thefreedictionary.com]

  Purchase red photophobia glasses and red Rx fitover photophobia glasses here. Sources: Park, William L. Red contact lenses for alleviation of photophobia in patients with cone disorders. American journal of ophthalmology 137.4 Apr 2004: 774-775. [somnilight.com]

  Clinical description ACHM is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, and reduced or complete loss of color discrimination. [orpha.net]

• Visual Impairment

  Light-absorbing glasses (absorption > 90%) can ameliorate this visual impairment to a certain extent but are sometimes not accepted by the patient since they are felt to disfigure the face. [ncbi.nlm.nih.gov]

  See The Guardian's photos Most people with visual impairments need as much light as possible in order to make use of what residual sight they do have. [rnib.org.uk]

• Central Scotoma

  Clinical description ACHM is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, and reduced or complete loss of color discrimination. [orpha.net]

  The central scotoma often leads to eccentric fixation. The ERG shows a complete absence of cone function. [disorders.eyes.arizona.edu]

  Measurable improvements in visual acuity, decreased size of central scotomas, enlargement of peripheral visual fields, and enhanced visibility of long-wavelength stimuli in normal illumination have been reported" with the use of red tinted photophobia [somnilight.com]

• Strabismus

  [J Pediatr Ophthalmol Strabismus. 2018;55(2):85-92.]. Copyright 2017, SLACK Incorporated. [ncbi.nlm.nih.gov]

  Conversely, early developmental disturbances of vision often disrupt ocular motor control systems, giving rise to complex disorders such as nystagmus, strabismus, and torticollis. [books.google.ro]

  Resources for Families of Children with Achromatopsia Achromatopsia.info Achromatopsia by the American Association for Pediatric Ophthalmology and Strabismus Achromatopsia by Genetics Home Reference Understanding Achromatopsia as published in the Vision [afb.org]

  J Pediatr Ophthalmol Strabismus 26:218–223 PubMed Google Scholar 31. Haegerstrom-Portnoy G, Schneck ME, Verdon WA, Hewlett SE (1996) Clinical vision characteristics of the congenital achromatopsias. II. Color vision. [link.springer.com]

• Visual Acuity Decreased

  In addition to decreasing light sensitivity, tinted lenses have been reported to improve visual acuity, decrease the size of central scotomata, enlarge peripheral visual field, and enhance visibility of long wavelength stimuli in bright illumination. [ncbi.nlm.nih.gov]

  Measurable improvements in visual acuity, decreased size of central scotomas, enlargement of peripheral visual fields, and enhanced visibility of long-wavelength stimuli in normal illumination have been reported" with the use of red tinted photophobia [somnilight.com]

• Hunger

  He said that, 'If you had come up with this, you know, when I first saw you, I would have said, hallelujah, because I hungered and panted for colour and my world was deficient and abnormal and horrible'. [webofstories.com]

• Nystagmus

  A 32-year-old man presented with reduced and stable visual acuity, complete color blindness, nystagmus, and debilitating photophobia. [ncbi.nlm.nih.gov]

  nystagmus and reduced visual acuity. [medical-dictionary.thefreedictionary.com]

  The difference with pathologic nystagmus is that it involves the vestibule-ocular reflex. [healthosphere.com]

• Pendular Nystagmus

  Her younger brother was diagnosed with complete ACHM and was not able to hold fixation, had severe pendular nystagmus, visual acuity that ranged from 0.08 to 0.1, and severe color vision abnormalities in both eyes. [ncbi.nlm.nih.gov]

  Clinical description ACHM is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, and reduced or complete loss of color discrimination. [orpha.net]

  Patients have pendular nystagmus, progressive lens opacities, severe photophobia, 'day' blindness, and, of course, color blindness. High myopia is a feature in some populations. [disorders.eyes.arizona.edu]

• Involuntary Movements

  They also may have a variable degree of nystagmus (involuntary movement of the eyes). Other types of cone dystrophies may involve some degree of loss of rod cell vision. [blindness.org]

  Top of page In order to diagnose achromatopsia, specialists search for the following symptoms and signs while performing an eye examination: low visual acuity (poor detail vision from afar); nistagmus (involuntary movement of the eyes); photophobia (light [acromatopsia.it]

  Nystagmus Nystagmus involves the oculomotor system where the oscillatory movement is uncontrolled. Involuntary movement of the eye may be acquired in infancy or latter part in life wherein the condition results to limited visual capacity. [healthosphere.com]

  Nystagmus (involuntary movement of the eyes) is a symptom of achromatopsia, one that is especially noticeable during infancy and childhood, but having this symptom is not the same as having the medical eye condition which is known as "congenital nystagmus [achromat.org]

In any patient with disturbances of vision, a detailed ophthalmoscopic workup is necessary to establish the cause of the complaints. In all patients except neonates and young infants, color vision tests may be performed, to confirm the absence of color vision [11], such as the Ishihara color plates.

Electroretinogram (ERG) is a diagnostic method which evaluates the function of retinal cells, including cones, and electrical stimuli are used to assess the status of the cones in the patients [12]. In virtually all cases, this test can detect loss of cone function. It is a procedure that can be performed in patients of all ages and can be useful for the diagnosis of achromatopsia in infants and young children.

Genetic testing can be performed in patients in whom the loss of cone function is confirmed through clinical findings and diagnostic procedures.

In addition to diagnostic techniques, family history of the patients should be obtained in detail, to identify other close relatives with similar symptoms, or those who have already been diagnosed with the disease.

• Central Scotoma

  Clinical description ACHM is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, and reduced or complete loss of color discrimination. [orpha.net]

  The central scotoma often leads to eccentric fixation. The ERG shows a complete absence of cone function. [disorders.eyes.arizona.edu]

  Measurable improvements in visual acuity, decreased size of central scotomas, enlargement of peripheral visual fields, and enhanced visibility of long-wavelength stimuli in normal illumination have been reported" with the use of red tinted photophobia [somnilight.com]

Current treatment of achromatopsia involves management of symptoms, through the use of tinted or filter lenses in different colors, which can effectively reduce photophobia and light sensitivity, while improving visual acuity [13]. By using different types of lenses, visual acuity can be partially or completely corrected, thus reducing the burden of this disease to a minimum. Occupational exposure to lighting can be adapted, depending on the occupation. With the help of optical aids, as well as aforementioned techniques, this disease may not be all that debilitating for the patient.

Identification of gene mutations in the majority of patients with achromatopsia has led to the development of gene therapy as a potential therapeutic strategy, and significant progress has been made in animal models [14]. Through injection of "normal" gene into an adeno-associated virus underneath the fovea centralis, into the retina, has led to improvement in visual function, and normal functioning of CNGB3, which presents as a major step in creating gene therapy as a definite measure for patients with this genetic disorder. Still, significant steps have to be made in order for this therapy to be used in everyday medical practice.

Achromatopsia is not a progressive disease. It does not affect any other system or organ and is not life-threatening. Several strategies have been developed to reduce the burden of photophobia and impaired visual acuity, especially in bright light.

This disease is of genetic origin and is transmitted in an autosomal recessive manner. Several genes have been identified, which have been reported to be responsible for formation and function of ion channels in cones, as well as transmission of the light signal to the occipital cortex. Their mutations have been observed and confirmed as a cause in this genetic disease [2] [3]. Although achromatopsia is usually considered to be genetic in origin, acquired forms of achromatopsia, such as cerebral achromatopsia, which occurs as a result of extensive damage within the occipital lobe, where the primary visual cortex is located, have also been documented [4]. The cause is most likely trauma, but other causes may be considered as well.

The prevalence rates of achromatopsia vary throughout different regions of the world, but it occurs in approximately 1 in 30,000 individuals [5], with the majority of patients developing complete achromatopsia rather than partial. This disorder has been established to occur more frequently in consanguineous marriages, and prevalence rates between 4% and 10% are observed among Pingelapese islanders living in Micronesia due to a high rate of consanguineous marriages. Neither racial nor gender predilection have been established.

Under physiological conditions, the retina contains cells that are responsible for vision - rods which are the most numerous cells in the retina, and are responsible for formation of peripheral and light-sensitive vision; and cones, which are responsible for color and high-resolution vision, and are further divided into red, blue, and green cones. The concentration of the cones is highest in the central part of the retina, the fovea centralis. The signal from the cones is transmitted principally through glutamate, the main excitatory neurotransmitter in the central nervous system [6].

In patients who develop mutations in the genes responsible for the normal development of cones and proper color vision, which is the case in achromatopsia, the partial or total absence of functioning of cone cells in the retina lead to distorted color vision. Namely, mutations in genes responsible for normal ion channel functioning (cyclic nucleotide-gated ion channels, or CNGs), and concentrations in cyclic guanosine monophosphate (cGMP) have been established, and the pathogenesis of achromatopsia involves reduced levels of cGMP, resulting in hyperpolarization with no release of glutamate [7]. As a result, ion permeability and the efficacy of signal transduction is reduced, eventually leading to complete loss of cone function and color blindness. Specifically, mutations in CNGA3, CNGB3, or mutations in genes responsible for phosphodiesterase (PDE), e.g. PDE6C and PDE6H have been reported, and all are involved in the mediation of opening the ion channels [8].

Currently, genetic forms of achromatopsia cannot be prevented, while the burden of acquired forms can be reduced through protection against brain damage, through various measures (wearing of protective equipment in contact sports or in other circumstances in which accidental head trauma may occur)

Achromatopsia is a rare genetic disease which results primarily in a loss of vision that may be either partial or total, depending on the severity of the disease [1]. Several gene mutations have been reported. This disease is transmitted in an autosomal recessive pattern. The disorder occurs either due to partial or total loss of cone function. The cones are located in the fovea centralis of the retina. This disorder is seen in about 1 in 30,000 individuals, but prevalence rates vary throughout the world. Complete achromatopsia is the most common variant observed. Additional symptoms include reduced visual acuity (since cones are also important mediators of fine-detail vision), nystagmus, pronounced photophobia. The diagnosis is made through clinical symptoms, while family history may reveal members with achromatopsia, and through the use of several ophthalmologic tests, such as ophthalmoscopy, visual acuity testing, and electroretinogram to evaluate the function of rods and cones. Genetic testing is available to confirm the diagnosis based on the history, signs, and symptoms. Current treatment strategies include management of symptoms, such as correction of visual acuity, wearing tinted lenses or glasses, to reduce photophobia and improve fine-detail vision. However, gene therapy has shown promising results in animal models and may serve as a potential therapeutic strategy in the near future.

Achromatopsia is an inherited genetic disorder that results in partial or total loss of color vision. This disorder is transmitted from parents to children in an autosomal recessive pattern, which implies that both parents need to have mutated copies of the genes responsible for this disease. In a majority of the cases, parents do not have signs of the disease, but each carries one copy of the mutated genes. Therefore, there is a 1 in 4 chance that their child will develop this disease.

Achromatopsia develops as a result of several established gene mutations, and in this disease, color vision loss occurs because of poor functioning of cells called cones, in the eyes. They are responsible for color vision . But since cones are also responsible for high-resolution vision, patients may often report blurred vision, accompanied with either farsightedness or nearsightedness, as well as increased sensitivity to light (termed photophobia) and involuntary eye movements (nystagmus). This disorder is considered to be rare, and approximately 1 in 30,000 individuals develop this condition.

Patients who report visual disturbances must undergo detailed inspection and examination of eyes, and ophthalmologic examination, usually accompanied with color vision tests that will confirm the absence of color vision. Electroretinogram is a technique which uses electric stimuli to evaluate the functions of the cells in the retina, and this test usually shows the absence of activity of the cells responsible for color vision. Since several gene mutations have been reported, genetic testing can confirm the diagnosis of achromatopsia.

Advances have been made in the field of gene therapy, but current therapeutic strategies include only symptomatic management, through the use of tinted or colored lenses, to aid patients with light sensitivity, and to improve visual acuity.

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