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Diseases » Achromatopsia » Glossary

Glossary for Achromatopsia

Achromatopsia: Patients who have achromatopsia (sometimes called achromatopia) do not have normal "cone vision.". Although the term may refer to acquired disorders such as color agnosia and cerebral achromatopsia, it typically refers to an autosomal recessive congenital color vision disorder, the inability to perceive color AND to achieve satisfactory visual acuity at high light levels (typically exterior daylight).
Achromatopsia 2: A rare form of colorblindness involving atypical rod monochromatism which and causing pendular nystagmus and photophobia.
Chromosome 15q tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
Chromosome 15q, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is involved.
Hemeralopia, familial: A rare familial disorder where a person can only see when the light is faint or absent. Sufferers are unable to see in bright light and thus daytime vision is poor but nighttime vision is good.
Nystagmus: Involuntary jerky eye movements
Photophobia: An exaggerated or irrational fear of light.
Retinohepatoendocrinologic syndrome: A rare inherited disorder characterized mainly by eye, liver and endocrine function abnormalities.
Rod Monochromacy 2: A rare form of colorblindness involving atypical rod monochromatism which and causing pendular nystagmus and photophobia.
Rod Monochromatism 2: A rare form of colorblindness involving atypical rod monochromatism which and causing pendular nystagmus and photophobia.