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Achromatopsia
Disease definition
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.
ORPHA:49382
Classification level: Disorder- 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: Infancy, Neonatal
- ICD-10: H53.5
- ICD-11: 9B70
- OMIM: 216900 262300 610024 613093 613856 616517
- UMLS: C0152200
- MeSH: -
- GARD: -
- MedDRA: 10000454
Summary
Epidemiology
The prevalence is estimated to be 1/30,000-1/50,000 worldwide.
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. 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.
Etiology
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.
Diagnostic methods
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
Differential diagnosis includes blue cone monochromatism (BCM), Leber congenital amaurosis, other cone dystrophies (see these terms), and cerebral achromatopsia
Antenatal diagnosis
Prenatal diagnosis may be offered by specialized laboratories to at-risk couples.
Genetic counseling
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% risk of having an affected child.
Management and treatment
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.
Prognosis
ACHM is usually a stationary disease, yet macular degeneration can occur.
A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Greek (2013, pdf) Suomi (2013, pdf) Polski (2013, pdf) Polski (2013)
Detailed information
General public
- Article for general public
- Español (2016) - GuíaSalud
Guidelines
- Clinical practice guidelines
- Español (2017, pdf) - Ministerio de Sanidad
Disease review articles
- Clinical genetics review
- English (2018) - GeneReviews
Genetic Testing
- Guidance for genetic testing
- English (2011) - Eur J Hum Genet
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: produced/endorsed by FSMR(s)
Additional information