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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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Luciana Berger in 2009-2010.
Simon suffers from the rare
genetic disorder choroideremia: a
condition that
leads to
progressive deterioration in eyesight, and...
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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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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...
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Cataract (peripheral cortical)
Certain medications, such as
phenothiazines Choroideremia Chronic Pancreatitis -
Presumably due to
malabsorption of
vitamin A...
- 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...
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iridis Persistent pupillary membrane Iridodialysis Synechia Choroid Choroideremia Choroiditis Chorioretinitis Focal choroidal excavation Polypoidal choroidal...
- Excludes:
angioid streaks (H35.3) (H31.2)
Hereditary choroidal dystrophy Choroideremia Dystrophy,
choroidal (central areolar) (generalized) (peripapillary)...
