Achromatopsia
Synonyms: ACHM | Complete or incomplete color blindness | Pingelapese blindness | Rod monochromacy | Rod monochromatism | Total color blindness
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Achromatopsia?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.