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Good day.
My name is Ian McDonald,
I'm the Acting Chair
of the Department of Ophthalmology
and Visual Sciences
at the University of Alberta
in Edmonton, Canada.
I'm pleased to speak
with you about
choroideremia: a
unique retinopathy.
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Here's the outline of
what I'm going to cover.
An introduction,
the clinical manifestations
of choroideremia,
its differential
diagnosis, histopathology,
electrophysiology, some
of the cell biology,
the genetic analysis
of choroideremia,
and clinical trials and
potential therapies.
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Choroideremia is a
progressive degeneration
of the retinal
pigment epithelium,
the retina and choroid.
Ludwig Mauthner, an
Austrian ophthalmologist,
first described
choroideremia in 1872.
He believed the
condition represented
a congenital absence
of the choroid.
Importantly,
Mauthner indicated
that choroideremia
should be considered
a separate diagnosis
from retinitis pigmentosa.
Choroideremia is uniquely
a human retinopathy
as there are, to my knowledge,
no naturally occurring animal
models of this disorder.
It is relatively rare,
affecting one in
50,000 individuals
in a general population,
and is present in all
races and ethnicities.
Choroideremia is usually
not associated with
syndromic features,
such as sensorineural
deafness or myopathy.
It is an X-linked disorder,
and for that reason,
a man affected by choroideremia
will pass it on to
all his daughters,
but none of his sons as they
inherit his Y chromosome.
Female carriers of
choroideremia can be
identified with distinct
fundus features
usually seen by examining
the fundus with
imaging techniques that
I will show later.
