Home Health Hereditary retinal dystrophies: five things to know

Hereditary retinal dystrophies: five things to know

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Hereditary dystrophies of the retina (inherited retina distrophies, IRDs) are a group of eye diseases characterized by a progressive loss of vision over time. They represent the main cause of blindness in childhood and working age.

Research shows that vision impairment and blindness in children often cause social isolation, emotional distress, loss of independence, and the risk of falls and injuries. Here are five pieces of information to help you understand what it is.

What are hereditary retinal dystrophies?

Hereditary retinal dystrophies are a group of genetically determined rare diseases that can lead to total blindness, which primarily impact children and young adults.

What is hereditary retinal dystrophy associated with the RPE65 gene mutation?

The RPE65 gene is one of over 260 genes that may be responsible for hereditary retinal dystrophy. Mutation of both copies of this RPE65 gene can lead to total blindness. In the early stages of the disease, patients may suffer from night blindness (nyctalopia), loss of sensitivity to light, loss of peripheral vision, loss of sharpness or visual clarity, impaired dark adaptation and uncontrolled repetitive eye movements (nystagmus).

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How many people have hereditary retinal dystrophy associated with the RPE65 gene mutation?

The mutation of both copies of the RPE65 gene is estimated to affect 1 in 200,000 people. Almost 60% of patients suffer from a severe form of the disease that involves severe vision damage from birth.

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How is the diagnosis made?

Patients with mutations in both copies of the RPE65 gene can generally receive a clinical diagnosis of Leber’s congenital amaurosis or retinitis pigmentosa. But a genetic test is needed to confirm that vision loss is caused by mutations in the RPE65 gene. Access to genetic testing is therefore essential for receiving an accurate diagnosis and access to treatment. Unfortunately, in many countries, genetic texts are either lacking in the early stages of development or not available on a large scale.

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What is the impact of hereditary retinal dystrophy?

Hereditary retinal dystrophies have a physical, emotional and economic impact on patients and their carers. Furthermore, they are often associated with a lower level of education and lower earnings for patients. The indirect costs of hereditary retinal dystrophy over the course of a patient’s life have been estimated at over $ 1.9 million, due to the cumulative effect of fewer educational opportunities, lower academic achievement, reduced earnings and a high need for assistance, often from an early age. Finally, visually impaired people not only place a significant burden on their caregivers, but also increase the risk of the latter suffering from depression.


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