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(H31.2) Hereditary choroidal dystrophy
More details coming soon
65 110 in individuals diagnosis hereditary choroidal dystrophy confirmed
Diagnosis hereditary choroidal dystrophy is diagnosed Women are 1.51% more likely than Men
32 062
Men receive the diagnosis hereditary choroidal dystrophy
0 (less than 0.1%)Died from this diagnosis.
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33 048
Women receive the diagnosis hereditary choroidal dystrophy
0 (less than 0.1%)Died from this diagnosis.
Risk Group for the Disease hereditary choroidal dystrophy - Men aged 75-79 and Women aged 80-84
In Men diagnosis is most often set at age 0-94
Less common in men the disease occurs at Age 0-1, 95+Less common in women the disease occurs at Age 95+
In Women diagnosis is most often set at age 0-94
Disease Features hereditary choroidal dystrophy
Absence or low individual and public risk
Hereditary choroidal dystrophy - what does this mean
Hereditary choroidal dystrophy is a genetic disorder caused by a mutation in one of several genes that control the development of the choroid, the layer of blood vessels beneath the retina. this mutation can cause the choroid to become thin and leaky, leading to vision loss and other eye problems.
What happens during the disease - hereditary choroidal dystrophy
Hereditary choroidal dystrophy is caused by a genetic mutation in the best1 gene, which is responsible for the production of the best1 protein. this protein is essential for the normal functioning of the retinal pigment epithelium (rpe) cells, which are responsible for the transport of nutrients to the photoreceptors and the maintenance of the outer retina. when the best1 protein is not produced properly, the rpe cells become damaged, leading to the formation of choroidal lesions and the death of photoreceptors, resulting in vision loss.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete ophthalmic examination
- Visual acuity test
- Fluorescein angiography
- Optical coherence tomography (OCT) scan
- Electrophysiological tests
- Genetic testing
Treatment and Medical Assistance
Main goal of the treatment: To slow the progression of the disease and preserve vision.
- Regular eye exams with an eye care professional
- Monitoring of visual acuity
- Monitoring of intraocular pressure
- Photodynamic therapy
- Laser therapy
- Surgical intervention
- Vitamin therapy
- Anti-inflammatory medications
- Corticosteroid therapy
11 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Hereditary choroidal dystrophy - Prevention
Hereditary choroidal dystrophy is a rare eye disorder that is typically inherited. prevention of this disorder is difficult since it is genetic, however, regular eye exams can help to detect changes in the choroid layer of the eye that may indicate the presence of this disorder. additionally, individuals with a family history of the disorder should be aware of the warning signs and seek medical advice if any signs or symptoms arise.