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Achromatopsia

Orpha number ORPHA49382
Synonym(s) ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
Prevalence 1-9 / 100 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • H53.5
OMIM
UMLS
  • C0152200
MeSH -
MedDRA
  • 10000454
SNOMED CT
  • 56852002

Summary

Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

The prevalence is estimated to be 1/30,000-1/50,000 worldwide.

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. Most individuals have complete ACHM, with total lack of function in all three types of cones. Rarely, individuals have incomplete ACHM, with similar, but generally less severe symptoms.

Five genes (GNAT2 (1p13), PDE6C (10q24), PDE6H (12p13), CNGA3 (2q11.2), and CNGB3 (8q21.3)) have been associated with ACHM, all encoding key components of the cone phototransduction cascade (G-protein GNAT2 > phosphodiesterase PDE6C/PDE6H > cyclic nucleotide gated channel CNGA3/CNGB3). Mutations in CNGB3 are the most prevalent, followed by CNGA3, while the others are rare causes of ACHM.

The diagnosis of ACHM is based on clinical ophthalmological examination, psychophysical testing (i.e. color vision) and electrophysiological testing (electroretinography - ERG) where a loss of photopic but normal scotopic responses is observed. Optical coherence tomography shows progressive disruption and/or loss of the inner/outer segment junction of the photoreceptors and an attenuation of the retinal pigment epithelium (RPE) within the macular region. The diagnosis is verified by molecular genetic analysis of the causative genes.

Differential diagnosis includes blue cone monochromatism (BCM), Leber congenital amaurosis, other cone dystrophies (see these terms), and cerebral achromatopsia

Prenatal diagnosis may be offered by specialized laboratories to at-risk couples.

ACHM is transmitted in an autosomal recessive manner. Carrier testing for family members at risk of mutations is possible once the disease-causing mutations have been identified in the family. Furthermore, genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child.

There is no specific therapy available. Management is symptomatic and includes regular ophthalmological follow-up examination. Patients should be informed about the possibility of using filtering glasses or contact lenses (red tinted or brown) to reduce photophobia and to improve contrast sensitivity. Low-vision aids include high-powered magnifiers for reading.

ACHM is usually a stationary disease, yet macular degeneration can occur.

Expert reviewer(s)

  • Dr Susanne KOHL

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Detailed information

Guidance for genetic testing
  • EN (2013,pdf)
Clinical genetics review
  • EN (2013)
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