Doyne honeycomb retinal dystrophy

Doyne Honeycomb Retinal Dystrophy (DHRD), also known as Malattia Leventinese and honeycomb retinal dystrophy, is a rare, genetic eye disorder characterized by the progressive loss of vision due to the accumulation of yellow-white deposits, known as drusen, beneath the retina. This condition typically manifests in the second or third decade of life and gradually progresses, affecting central vision over time. DHRD is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Causes

Doyne Honeycomb Retinal Dystrophy is caused by mutations in the EFEMP1 gene, which provides instructions for making a protein called fibulin-3. This protein is involved in the formation and repair of the extracellular matrix, a complex network of proteins and other molecules that provide structural and biochemical support to cells. Mutations in the EFEMP1 gene lead to abnormal accumulation of extracellular material beneath the retina, forming the characteristic drusen.

Symptoms

The primary symptom of DHRD is the progressive loss of central vision due to the accumulation of drusen beneath the macula, the part of the retina responsible for sharp, detailed vision. Early in the disease, individuals may experience slight blurriness and difficulty reading or recognizing faces. As the condition progresses, these visual impairments become more pronounced, potentially leading to legal blindness. However, peripheral vision is usually preserved.

Diagnosis

Diagnosis of Doyne Honeycomb Retinal Dystrophy is primarily based on the clinical examination of the eye, including the use of imaging techniques such as fundus photography, optical coherence tomography (OCT), and fluorescein angiography. These imaging methods allow for the visualization of drusen beneath the retina. Genetic testing can confirm the diagnosis by identifying mutations in the EFEMP1 gene.

Treatment

There is currently no cure for Doyne Honeycomb Retinal Dystrophy. Treatment focuses on managing symptoms and slowing the progression of the disease. This may include the use of low vision aids and adaptive technologies to help individuals maintain independence and quality of life. Regular monitoring by an ophthalmologist is important to manage any complications that may arise, such as choroidal neovascularization, which can be treated with anti-VEGF therapy to slow vision loss.

Prognosis

The prognosis for individuals with Doyne Honeycomb Retinal Dystrophy varies. While the condition gradually leads to a loss of central vision, the rate of progression and the degree of vision loss can vary widely among affected individuals. Peripheral vision is typically preserved, and many people with DHRD maintain a relatively high quality of life with the help of low vision aids and support services.

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