Choroideremia

Choroideremia (CHM) is a rare inherited disorder that causes progressive vision loss, ultimately leading to complete blindness.

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Healthy Retina

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Retina damaged by Choroideremia

The first symptom is generally night-blindness, followed by vision loss in the mid-periphery. These “blind spots” appear in an irregular ring, only leaving patches of peripheral vision, while central vision is still maintained. Over time the peripheral vision loss extends in both directions leading to “tunnel vision” and eventually complete loss of sight. The disease affects the retina, which is the area at the back of the eye. CHM is considered a rare disease because it only affects an estimated 1 in 50,000 individuals. The disease is caused by a genetic defect of the X-Chromosome, and thus typically only males suffer the full effects of complete blindness, while females are carriers of the disease. CHM has a 50% chance of passing onto the children of an affected parent, although – due to the defect’s presence on the X-Chromosome affected males cannot pass the disease on to their sons. There is currently no cure for Choroideremia, but a Gene Therapy treatment is now in Human Clinical Trials in the United States, the UK, and in Canada.  Individuals wishing to participate in these Clinical Trials will need to have their diagnosis of CHM verified with a  Genetic Test.  The early results from these Clinical Trials have been very positive, and may soon offer individuals a first ever treatment for CHM.

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What is Choroideremia?

Choroideremia (CHM) is a rare inherited disorder that causes progressive loss of vision due to degeneration of the choroid and retina which is caused by a lack of RAB Escort Protein-1 (REP-1). Choroideremia occurs almost exclusively in males. The first symptom, most commonly noticed in childhood, is night blindness. As the disease progresses, there is loss of vision, frequently starting as an irregular ring that gradually expands both in toward central vision and out toward the extreme periphery. Loss of acuity, depth perception, color perception and an increase in the severity of night blindness may also occur during this progression. Progression of the disease continues throughout the individual’s life. Both the rate of change and the degree of visual loss are variable among those affected, even within the same family.

Inheritance

Choroideremia is genetically passed through families by an X-linked pattern of inheritance. In this type of inheritance, the gene for Choroideremia is located on the X chromosome. Females have two X chromosomes, but generally, only one of the X chromosomes will carry the defective gene. Because females have a healthy version of the gene on their other X chromosome that produces REP-1, they normally do not suffer the full effects of CHM. In many cases, female carriers suffer mild symptoms of CHM later in life, such as night blindness and glare sensitivity. In rare cases, female carriers even suffer the full effects of CHM.

Males have only one X chromosome (paired with one Y chromosome) and are therefore genetically susceptible to inherit X-linked diseases. Males cannot be carriers of X-linked diseases, but they will pass the gene on their X chromosome to their daughters, who then become carriers. Affected males never pass an X-linked disease gene to their sons because fathers pass only the Y chromosome to their sons. Female carriers have a 50 percent chance (or 1 chance in 2) of passing the X-linked disease gene to their daughters, who as a result will become carriers and will have a 50 percent chance of passing the gene to their sons, who would then acquire the disease.

Basic description of the REP-1 Protein | Dr. Ian McDonald

The choroideremia gene product is called REP-1 (for Rab escort protein-1). This protein functions to bring other small proteins (thinking of them as signals) into association with an enzyme that adds 20-carbon long chains to the small signals. These signal proteins can then fit into the lipid membrane that surrounds the cell. The small signals are thought to play a role in allowing nutrients to pass across cells. Imagine that this process occurs constantly at the back of the eye as special nutrients are required to keep the biochemical pathways of vision operating at capacity while our eyes are open. Apparently there is another protein called REP-2 in all cells that allows normal cell function if REP-1 is not present. Scientists suggest that the amount of REP-2 may not be sufficient to allow the normal cell processes to occur in some cells such those of the eye. Unfortunately, the male patient with choroideremia makes a defective REP-1 protein that is rapidly lost from the eye and REP-2 is not able to replace its function. You recall that the gene is on the X chromosome. Males only have one X and so only one copy of the gene that makes the protein. If the gene copy is changed, there is no other normal copy around to mask the effect of not having the normal protein available. Research is trying hard to find ways of getting the cells in the eye to make the normal protein.

What we're doing to help

At this time, there is no treatment or cure for this disease. However, what we have is hope. In our short history, we have already seen incredible advances made in CHM research. Now, it is no longer a question of if a cure will be developed; it is a question of when!

The Choroideremia Research Foundation, Inc. is dedicated to helping researchers find that cure or treatment. By donating to the Foundation, or by becoming an active member, you will help us accomplish our goal of restoring sight to CHMers worldwide!

(Thanks to the Foundation Fighting Blindness and Dr. Ian MacDonald for some of this material)

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Living with Choroideremia

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The first symptom is generally night-blindness, followed by a loss of peripheral vision with increasing blind spot, the peripheral vision loss over time leads to tunnel vision and eventually blindness.

This picture series shows the difference between a full visual field and the severely diminished field of a person in the advanced stages of Choroideremia Use the slider bar below to see the progression of the disease as a person ages, or click on any image to view a larger slideshow.

age: 35

What we’re doing to help

The Choroideremia Research Foundation Inc. is an international, non-profit organization dedicated to raising funds to find a treatment or cure for Choroideremia, a rare inherited retinal degenerative disease that causes blindness. Our mission is to raise funds in support of scientific research leading to a treatment or cure of choroideremia, a hereditary retinal-degenerative disease that causes blindness; to educate people affected by the disease; and to inform the public.

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