Decoding Malattia Leventinese: Understanding, Diagnosing, and Using Genetic Testing

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Understanding Malattia Leventinese

Malattia Leventinese, also known as Doyne Honeycomb Retinal Dystrophy, is a rare genetic eye disorder that affects the macula, the central part of the retina responsible for sharp, central vision. This condition is characterized by the progressive deterioration of the macula, leading to vision loss and eventual blindness. The onset of symptoms typically occurs in early to mid-adulthood and gradually worsens over time.

Malattia Leventinese is caused by mutations in the EFEMP1 gene, which encodes a protein called fibulin-3. This protein plays a crucial role in maintaining the integrity of the extracellular matrix, a complex network of proteins and carbohydrates that provides structural support to cells and tissues. The R345W mutation in fibulin-3 is associated with retinal degeneration in Malattia Leventinese, as it affects the protein’s folding and stability. [1]

Diagnosing Malattia Leventinese

Diagnosing Malattia Leventinese involves a comprehensive eye examination and imaging techniques to assess the condition of the retina. Optical coherence tomography (OCT) and fundus autofluorescence imaging are commonly used to visualize the retinal structure and identify characteristic features of the disease, such as drusen (yellowish deposits beneath the retina) and retinal pigment epithelium alterations. [1]

In addition to clinical examinations, genetic testing can be employed to confirm the diagnosis of Malattia Leventinese. The identification of the R345W mutation in the EFEMP1 gene is a strong indicator of the condition. [1]

Using Genetic Testing for Malattia Leventinese

Confirming Diagnosis

Genetic testing is a valuable tool for confirming the diagnosis of Malattia Leventinese, especially in cases where clinical and imaging findings may be inconclusive. By analyzing the patient’s DNA, healthcare providers can identify the presence of the R345W mutation in the EFEMP1 gene, which is strongly associated with the development of the disorder. [1]

Family Planning and Prenatal Testing

As Malattia Leventinese is a genetic disorder, individuals with a family history of the condition may benefit from genetic testing to determine their carrier status. This information can be helpful for family planning purposes, as it allows couples to make informed decisions about the potential risks of having a child with the disorder. Additionally, prenatal testing can be performed to assess the presence of the R345W mutation in the fetus, providing valuable information for expecting parents. [1]

Identifying At-Risk Populations

Genetic testing can also be used to identify at-risk populations for Malattia Leventinese, such as individuals with a strong family history of the disorder or those belonging to specific ethnic groups with a higher prevalence of the condition. For example, a study investigating Malattia Leventinese in Saudi Arabian patients revealed unique clinical and multimodal imaging features in this population, highlighting the importance of genetic testing in identifying and managing the disorder in different ethnic groups. [1] [2]

Future Therapeutic Approaches

Understanding the genetic basis of Malattia Leventinese is essential for the development of future therapeutic approaches. By targeting the underlying genetic cause of the disorder, such as the R345W mutation in fibulin-3, researchers hope to develop novel treatments that can slow or halt the progression of retinal degeneration. Genetic testing can play a crucial role in identifying suitable candidates for these therapies, ensuring that patients receive the most appropriate and effective treatment options. [1] [2]

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)