Learn About Choroideremia

What is the definition of Choroideremia?

Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.

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What are the causes of Choroideremia?

Mutations in the CHM gene cause choroideremia. The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1). As an escort protein, REP-1 attaches to molecules called Rab proteins within the cell and directs them to the membranes of various cell compartments (organelles). Rab proteins are involved in the movement of proteins and organelles within cells (intracellular trafficking). Mutations in the CHM gene lead to an absence of REP-1 protein or the production of a REP-1 protein that cannot carry out its protein escort function. This lack of functional REP-1 prevents Rab proteins from reaching and attaching (binding) to the organelle membranes. Without the aid of Rab proteins in intracellular trafficking, cells die prematurely.

How prevalent is Choroideremia?

The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 people. However, it is likely that this condition is underdiagnosed because of its similarities to other eye disorders. Choroideremia is thought to account for approximately 4 percent of all blindness.

Is Choroideremia an inherited disorder?

Choroideremia is inherited in an X-linked recessive pattern. The CHM gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Who are the top Choroideremia Local Doctors?
Highly rated in

University Of Oxford

Oxford, ENG, GB 

Robert Maclaren is in Oxford, United Kingdom. Maclaren is rated as an Elite expert by MediFind in the treatment of Choroideremia. He is also highly rated in 16 other conditions, according to our data. His top areas of expertise are Retinitis Pigmentosa, Retinopathy Pigmentary Mental Retardation, Choroideremia, and Late-Onset Retinal Degeneration.

Highly rated in

Penn Medicine

Penn Presbyterian Medical Center

51 N 39th St 
Philadelphia, PA 19104

Tomas Aleman is an Ophthalmologist in Philadelphia, Pennsylvania. Dr. Aleman has been practicing medicine for over 34 years and is rated as an Elite doctor by MediFind in the treatment of Choroideremia. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Choroideremia, Leber Congenital Amaurosis, Retinitis Pigmentosa, and Cone-Rod Dystrophy. He is board certified in Ophthalmology and licensed to treat patients in Pennsylvania. Dr. Aleman is currently accepting new patients.

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Highly rated in

University Of Oxford

Oxford, ENG, GB 

Jasleen Jolly is in Oxford, United Kingdom. Jolly is rated as an Elite expert by MediFind in the treatment of Choroideremia. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Choroideremia, Late-Onset Retinal Degeneration, Retinitis Pigmentosa, and Retinopathy Pigmentary Mental Retardation.

What are the latest Choroideremia Clinical Trials?
Characterization of Night Vision Impairment in Choroideremia and Short-Term Vitamin A Supplementation: The Dark-Adapted Retinal Function Response in Choroideremia (DARC) Study
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Longitudinal Observation and Assessment of the Suprachoroidal Retinal Prostheses
Who are the sources who wrote this article ?

Published Date:updated Last, July

Published By: National Institutes of Health

What are the Latest Advances for Choroideremia?
Expression of Rab Prenylation Pathway Genes and Relation to Disease Progression in Choroideremia.
Validating Ellipsoid Zone Area Measurement With Multimodal Imaging in Choroideremia.
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Microperimetry Hill of Vision and Volumetric Measures of Retinal Sensitivity.