Malattia Leventinese, also known as Doyne Honeycomb Retinal Dystrophy, is a rare, inherited eye condition that progressively affects the macula, the part of the retina responsible for sharp, detailed central vision.
Understanding Malattia Leventinese
Malattia Leventinese is characterized by the accumulation of small, round, yellow-white deposits called drusen underneath the retinal pigment epithelium (RPE). These drusen appear in young adults and are observed in the macula and around the optic nerve head.
Over time, these drusen become more numerous and can coalesce, forming larger, more widespread deposits that sometimes resemble a honeycomb pattern. This accumulation can lead to the death of photoreceptor cells, which are light-sensitive cells responsible for vision. Symptoms include blurred vision, distorted vision, and difficulty adapting to differences in light or seeing in low light conditions. While the periphery of the retina remains unaffected, the progressive degeneration of the macula results in a decline in visual acuity, though it does not lead to complete blindness.
Genetic Basis
Malattia Leventinese is an inherited genetic disorder caused by a mutation in the EFEMP1 gene, also known as Fibulin-3. This gene provides instructions for making a protein called fibulin-3, which is expressed in various tissues, including the retina.
The inheritance pattern for Malattia Leventinese is autosomal dominant. This means only one copy of the mutated EFEMP1 gene is sufficient to cause the condition. If a parent has Malattia Leventinese, there is a 50% chance that each child will inherit the mutated gene and develop the condition. Genetic counseling is recommended for affected individuals and their families to understand the risks.
Diagnosis and Management
Diagnosing Malattia Leventinese involves a thorough eye examination and specialized tests to assess the retina. Ocular examinations, such as fundoscopy, allow ophthalmologists to detect the characteristic drusen deposits in the macula and around the optic nerve head. Imaging techniques like Optical Coherence Tomography (OCT) provide detailed cross-sectional views of the retina, helping to visualize the drusen and assess retinal thickness and integrity. Fluorescein angiography, which involves injecting a dye into the bloodstream, can reveal abnormal blood vessel growth or leakage under the retina.
Genetic testing is also an important diagnostic tool, confirming the presence of the EFEMP1 gene mutation and aiding in precise diagnosis. This genetic confirmation can also provide information about the transmission pattern within a family and help identify potential risks for future generations. Currently, there is no cure for Malattia Leventinese; however, management strategies focus on helping individuals cope with vision loss and monitoring the condition’s progression.
Management approaches include the use of low-vision aids, such as magnifiers or specialized electronic devices, to assist with daily tasks and improve remaining vision. Vision rehabilitation programs can also help individuals adapt to their vision impairment and learn new strategies for navigating their environment. Regular monitoring by an ophthalmologist is important to track changes in the retina and address any complications that may arise, such as choroidal neovascularization, which can be stabilized with anti-VEGF treatments.