Can Choroideremia be cured?
The symptoms of choroideremia can be treated but the disease itself cannot yet be cured. Organizations providing services to sight impaired people help patients and their families. Genetic counseling is recommended for families affected by this disorder.
What does Choroideremia mean?
Choroideremia is an X-linked chorioretinal dystrophy characterized by the diffuse, progressive degeneration of the retinal pigment epithelium (RPE), photoreceptors and choriocapillaris. It is caused by a mutation in the CHM gene and is the focus of exciting basic and clinical research.
Is Choroideremia dominant or recessive?
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.
What is the treatment of choroideremia?
At this time, there is no treatment or cure for choroideremia. As the disease progresses, further vision problems may develop. Additional treatments may be needed if other vision issues develop, such as cataracts and retinal swelling.
Is cone rod dystrophy rare?
Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals.
How is gyrate atrophy treated?
Two patients with gyrate atrophy have been treated with a low arginine diet and their blood ornithine levels have been reduced to near normal. At this level hyperammonemia may result from overtreatment, but this can be quickly cleared by a small dose of arginine.
How can Choroideremia be prevented?
Lutein has also been identified as a supplement to reduce the progression of atrophy and vision loss in choroideremia. Wearing sunglasses with UV protection is also highly recommended. Recent success in the treatment of certain genetic disorders has brought hope for developing a successful treatment for choroideremia.
Is there a cure for cone rod dystrophy?
There is no cure for cone dystrophy. Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may include using tinted lenses or dark sunglass in bright environments and magnifying devices to assist in reading and other similar activities.
Is gyrate atrophy curable?
Gyrate atrophy is an inherited disease caused by a mutation of the OAT gene. People with gyrate atrophy typically have very poor night vision and lesions on their retinas. These lesions progress over time leading to tunnel vision and can eventually cause blindness. There is currently no cure for gyrate atrophy.
How common is gyrate atrophy?
Gyrate atrophy (GA) is an autosomal recessive ocular disorder that is characterized by chorioretinal degeneration and was first described as an atypical form of retinitis pigmentosa. It is a rare disease, with an incidence of approximately 1 case per 50 000 individuals in Finland.
Can you work with retinitis pigmentosa?
WORKING WITH RETINITIS PIGMENTOSA It is possible to work while having RP; however, if your job requires you to have the ability to see, then you would have to learn new skills to cope. RP creates a challenges when there are not skills to take the place of being able to see what you are doing at work.
What is the treatment of Choroideremia?