Lenegres Disease, also known as vitelliform macular dystrophy, is a rare genetic disorder that causes deterioration of the macula, the central area of the retina. The macula is responsible for central vision and allows us to see fine details. Damage or dysfunction of the macula leads to loss of central vision over time. Lev’s disease is characterized by the development of yellow deposits or lesions in the macula in both eyes. Typically, these lesions appear in childhood or teenage years and progressively worsen throughout adulthood.
Genetic Cause And Inheritance Pattern
Lev’s disease is caused by mutations in the BEST1 gene located on chromosome 11. The BEST1 gene provides instructions for making a protein called bestrophin-1. This protein plays an important role in the function of the retinal pigment epithelium (RPE), a layer of cells located beneath the macula that is crucial for retinal health and vision. Mutations in the BEST1 gene disrupt the function of bestrophin-1, which leads to accumulation of cellular waste beneath the retina and formation of yellow deposits. Lev’s disease is inherited in an autosomal recessive pattern, which means an individual must inherit two copies of the mutated BEST1 gene - one from each parent - to be affected. Carriers who have one mutated copy of the gene are not usually affected.
Symptoms And Signs
The key symptom of Lenegres Disease is decrease in central vision over time. The main clinical features include the following:
- Development of small, yellow-white deposits or lesions in the macula during childhood or teenage years. These lesions have a vitelliform or "egg yolk" appearance when viewed through an ophthalmoscope or during an eye exam.
- As the disease progresses, the deposits tend to enlarge, increasing in both size and number in the macula. They often coalesce to form larger lesions.
- In later stages, the deposits may resolve, leaving the macula thinned out and scarred. This results in significant loss of central vision.
- Vision symptoms typically worsen slowly over decades but vary between affected individuals. Some experience rapid progression leading to legal blindness.
- Other less common signs include inflammation or deposits in other parts of the retina beyond the macula. Cataracts may develop at a young age in some cases.
Diagnosis And Testing
Lenegres Disease is diagnosed based on a comprehensive eye examination performed by an ophthalmologist. Diagnostic tests typically include:
- Dilated fundus exam and retinal angiography: Allows detailed examination of the retina and macula to visualize characteristic yellow deposits. Angiography reveals staining lesions.
- Genetic testing: DNA testing of the BEST1 gene can confirm a clinical diagnosis and family history suggestive of Lev’s disease.
- Imaging modalities: Optical coherence tomography (OCT) provides cross-sectional retinal images to evaluate macular abnormalities. Fundus autofluorescence detects excessive autofluorescence from deposits.
- Family history: Assessment of other affected family members helps support the diagnosis since Lev’s disease is inherited.
- Differential diagnosis: Other causes of macular degeneration and deposits like Stargardt disease need to be ruled out.
Disease Progression And Complications
If left untreated, Lenegres Disease slowly progresses over decades, leading to worsening vision impairment. Some key points about disease progression include:
- Vision loss is usually initially mild but advances over many years. Rapid progression occurs in about 15-20% of cases.
- As the macular deposits enlarge and lesions spread, central vision deteriorates further. Reading, facial recognition and driving ability are impacted.
- Legal blindness can occur in severe or rapidly progressive cases when vision decreases to 20/200 or worse.
- Rare complications include choroidal neovascularization which can cause scarring if not treated promptly.
- Cataract formation at a young age is seen in approximately 20% of individuals with Lev’s disease.
Treatment And Management
Currently there is no cure for Lev’s disease since the underlying genetic defect cannot be repaired. Treatment focuses on slowing progression and preserving remaining vision:
- Regular comprehensive eye exams and retinal imaging every 6-12 months allow for close monitoring of disease activity. Prompt treatment of complications.
- Antioxidant supplements like lutein, zeaxanthin and omega-3 fatty acids may provide some protection against oxidative damage to the retina.
- Laser photocoagulation or photodynamic therapy (PDT) can help treat neovascular complications effectively if diagnosed early.
- Cataract surgery is performed if needed to improve vision.
- Low vision aids may help with vision functional tasks as central sight worsens.
- Genetic counseling educates carriers and families about inheritance patterns and risk to offspring. Prenatal diagnosis and in vitro fertilization are options for high-risk couples.
Prognosis
The long-term prognosis depends on the specific BEST1 mutation, age of onset, and severity of individual cases. In general:
- Vision loss is usually gradual over decades but can vary. Time to legal blindness ranges widely from 10-40 years.
- About 15-20% of cases experience rapid progression leading to near blindness within 10 years.
- With timely management of complications, vision can typically be maintained at moderate levels for functional independence into middle-age.
- Severely affected individuals may become legally blind by 30-50 years of age on average without effective treatment.
- Some cases have stable vision even into older adulthood if deposits remain small and inactive.
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Author Bio:
Alice Mutum is a seasoned senior content editor at Coherent Market Insights, leveraging extensive expertise gained from her previous role as a content writer. With seven years in content development, Alice masterfully employs SEO best practices and cutting-edge digital marketing strategies to craft high-ranking, impactful content. As an editor, she meticulously ensures flawless grammar and punctuation, precise data accuracy, and perfect alignment with audience needs in every research report. Alice's dedication to excellence and her strategic approach to content make her an invaluable asset in the world of market insights. (LinkedIn: www.linkedin.com/in/alice-mutum-3b247b137 )
*Note:
1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it