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Blue cone monochromatism

Orpha number ORPHA16
Prevalence of rare diseases -
Inheritance
  • X-linked recessive
Age of onset Neonatal/infancy
ICD 10 code
  • H53.5
MIM number
Synonym(s) Achromatopsia incomplete, X-linked
Achromatopsia, atypical, X linked
S-cone monochromatism

Summary

X-linked incomplete monochromatism is a hereditary bilateral retinopathy. It is non-progressive, and spares rods and blue cones. It is characterized by slight, regular pendular nystagmus that decrease with age, along with a loss of visual acuity and defective color sight. The fundus appears normal, apart from altered reflection of the fovea in some patients. Color vision is very much affected, with a combination of protanopia and deuteranopia. The photopic electroretinogram is altered. The gene causing this disorder has been identified, gene map locus Xq28. Treatment is symptomatic only. *Author: O. Roche, M.D. (July 2005)*.

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