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Choroideremia (/kɒˌrɔɪdɪˈriːmiə/; CHM) is a rare, X-linked
recessive form of
hereditary retinal degeneration that
affects roughly 1 in 50,000 males. The...
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introduced to the Rab
protein cycle,
physiological disease states ensue.
Choroideremia is
caused by a loss-of-function
mutation in the CHM gene
which codes...
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Chromosome 21 Xq21
deletion syndrome) is a
syndrome characterized by
choroideremia,
congenital deafness and obesity. The
presentation for this condition...
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Luciana Berger in 2009-2010.
Simon suffers from the rare
genetic disorder choroideremia: a
condition that
leads to
progressive deterioration in eyesight, and...
- (Macular degeneration)
Vitamin A deficiency;
often via
xerophthalmia Choroideremia Glaucoma Visual snow
Aulus Cornelius Celsus,
writing ca. 30 AD, described...
- for the
hemophilia A
inhibitor market; and (iii) SPK-7001,
targeting choroideremia, or CHM. SPK-9001, a lead
product candidate in the SPK-FIX
program for...
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iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Focal choroidal excavation Polypoidal choroidal...
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Biological Diversity CHM, a
human gene that
encodes Rab
escort protein 1
Choroideremia, a
retinal disease caused by
mutations in the CHM gene ChM, advanced...
- with RAB1A, RAB7A and RAB3A.
Mutations in this gene are a
cause of
choroideremia; also
known as
tapetochoroidal dystrophy (TCD). This X-linked disease...
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iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Focal choroidal excavation Polypoidal choroidal...
