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Related to choroideremia: gyrate atrophy

chm

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Choroideremia is an X-linked monogenic recessive disease (caused by mutation of the REP-1 gene) starting with reduced night vision and progressive loss of peripheral vision and eventually leading to loss of visual acuity and blindness.
(115.) NCT02407678 REP1 Gene Replacement Therapy for Choroideremia (REGENERATE) An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1).
Barnard et al., "Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial," The Lancet, vol.
There is currently no known cure for choroideremia, though FDA clinical trials have begun.
Presently, the firm is planning to enrol up to ten patients afflicted with the choroideremia genetic mutation.
Tommy was diagnosed with choroideremia, a rare inherited eye disorder, when he was just five years old.
He suffers from the rare genetic disorder choroideremia, which can lead to blindness.
Inheritance Condition Pattern Description Charcot-Marie-Tooth Autosomal Disorder of peripheral disorder dominant motor and sensory nerves leading to muscle weak- ness and atrophy commonly in the legs Choroideremia X-linked Progressive loss of peripheral vision, and night blindness Cystic fibrosis Autosomal Respiratory condition resulting in recessive lung infections, coughing and difficulty in breathing Duchenne muscular X-linked Muscular weakness and wasting dystrophy Fanconi's anemia Autosomal All bone marrow components are recessive deficient including those for red blood cells, white blood cells, and platelets Fragile x syndrome X-linked Mild retardation.