Understanding, Diagnosing, and Using Genetic Testing for Doyne Honeycomb Retinal Dystrophy

Expert Reviewed By: ⁠Dr. Brandon Colby MD

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Doyne Honeycomb Retinal Dystrophy (DHRD), also known as Malattia Leventinese, is a rare, inherited eye disorder that affects the retina’s ability to process light. This condition can lead to progressive vision loss, making early diagnosis and intervention crucial. In this article, we will delve into the nature of DHRD, how it is diagnosed, and the role of genetic testing in managing this disorder.

Understanding Doyne Honeycomb Retinal Dystrophy

DHRD is characterized by the presence of small, yellowish-white deposits called drusen beneath the retina. These deposits form a honeycomb pattern, which is visible during an eye examination. The drusen interfere with the retina’s function, leading to symptoms such as blurred vision, difficulty seeing in low light, and, in advanced cases, significant vision loss.

The condition is typically inherited in an autosomal dominant manner, meaning that a single copy of the altered gene from an affected parent is sufficient to cause the disorder. The gene most commonly associated with DHRD is EFEMP1, which plays a role in the structural integrity of the retina.

Diagnosing Doyne Honeycomb Retinal Dystrophy

Diagnosis of DHRD often begins with a comprehensive eye examination by an ophthalmologist. The hallmark honeycomb pattern of drusen can be observed using imaging techniques such as fundus photography, optical coherence tomography (OCT), and fluorescein angiography.

Fundus photography captures detailed images of the retina, allowing doctors to visualize the drusen. OCT provides cross-sectional images of the retina, revealing the extent of the deposits and any associated retinal thinning. Fluorescein angiography involves injecting a fluorescent dye into the bloodstream and taking photographs of the retina as the dye circulates, highlighting any abnormalities.

The Role of Genetic Testing in DHRD

Identifying the Genetic Mutation

Genetic testing can confirm a diagnosis of DHRD by identifying mutations in the EFEMP1 gene. This involves analyzing a blood sample or a buccal swab for genetic alterations. Identifying the specific mutation can provide valuable information about the prognosis and potential progression of the disease.

Family Screening and Genetic Counseling

Since DHRD is inherited in an autosomal dominant pattern, there is a 50% chance that an affected individual will pass the mutation to their offspring. Genetic testing allows for family screening, helping to identify at-risk relatives who may benefit from early monitoring and intervention. Genetic counseling can provide families with information about the inheritance pattern, implications of the diagnosis, and reproductive options.

Personalized Treatment and Management

While there is currently no cure for DHRD, genetic testing can guide personalized treatment strategies. For instance, individuals with certain genetic mutations may be more responsive to specific therapies or lifestyle modifications. Understanding the genetic basis of the disease can also aid in the development of targeted treatments in the future.

Participation in Clinical Trials

Genetic testing can also facilitate participation in clinical trials. Researchers are continually exploring new treatments for retinal dystrophies, and genetic information can help match patients with appropriate studies. Participation in clinical trials offers access to cutting-edge therapies and contributes to the advancement of medical knowledge.

Conclusion

Doyne Honeycomb Retinal Dystrophy is a challenging condition that can significantly impact vision. Early diagnosis through comprehensive eye examinations and genetic testing is essential for managing the disease effectively. Genetic testing not only confirms the diagnosis but also provides critical information for family screening, personalized treatment, and participation in clinical trials. As research progresses, genetic insights will continue to play a pivotal role in understanding and treating DHRD, offering hope for improved outcomes for affected individuals and their families.

References: Semantic Scholar API

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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)