Directory of Choroideremia Resources

Home > Health > Conditions and Diseases > Eye Disorders > Retina > Choroideremia

Choroideremia (CHM) is an X-linked recessive eye disease causing degeneration of the choriocapillaris, retinal pigment epithelium, and photoreceptors, leading to severe visual impairment by adulthood. The pathogenetic mechanisms are unknown. The first clinical manifestation in CHM is night blindness during early adulthood followed by reduction of central vision and constriction of visual fields. The choroid and retina undergo complete atrophy. Heterozygous female carriers have no visual defect but often show striking funduscopic changes such as irregular pigmentation and atrophy around the optic disc.

Resources in This Category

• CHM Group

  http://groups.yahoo.com/group/choroideremia/
  Choroideremia support Group coordinated by William Tucker.

• Choroideremia Research Foundation Inc

  http://www.choroideremia.org/
  A support group for people with Choroideremia and their families that has grown into a foundation dedicated to finding a cure or treatment.

• Online Mendelian Inheritance in Man

  http://omim.org/entry/303100
  Detailing clinical features, nomenclature, diagnosis, population and molecular genetics, pathogenesis, and references.

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Home > Health > Conditions and Diseases > Eye Disorders > Retina > Choroideremia

 

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