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vitelliform macular dystrophy

ICD-10 Codes

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Description

Vitelliform Macular Dystrophy: A Rare Eye Disorder

Vitelliform macular dystrophy (VMD) is a rare inherited eye disorder that can cause progressive vision loss. The condition affects the retina, specifically the macula, which is responsible for central vision.

Symptoms and Progression

The symptoms of VMD are characterized by blurred or distorted central vision. Over time, the condition progresses slowly, and many people may retain good vision into later life. However, in some cases, it can lead to complete loss of central vision.

Genetic Etiology

VMD is caused by a genetic mutation that affects the BEST1 gene. This autosomal dominant disorder means that if one parent has the mutated gene, each child has a 50% chance of inheriting it.

Visual Impairment

The condition can cause significant visual impairment, with some people experiencing a bright, central spot where the lesions are located, while everything around it appears normal and intact. However, as the disease progresses, this spot may become distorted or blurred.

References:

  • [1] Vitelliform macular dystrophy is an inherited eye disorder that can cause progressive vision loss.
  • [4] Vitelliform macular dystrophy is a genetic eye disorder that can cause worsening (progressive) vision loss.
  • [7] Best disease (Best vitelliform macular dystrophy, BVMD) is a rare autosomal dominant disorder due to the mutation of BEST1 (or VMD2, TU15B) gene.
  • [9] Adult vitelliform macular (or foveomacular) dystrophy (AVD) is a condition affecting the centre of the macula – the most sensitive, central part of the retina.

Additional Characteristics

  • progressive vision loss
  • Vitelliform macular dystrophy
  • blurred or distorted central vision
  • significant visual impairment
  • bright, central spot where lesions are located
  • Best disease (Best vitelliform macular dystrophy, BVMD)
  • adult vitelliform macular (or foveomacular) dystrophy (AVD)

Signs and Symptoms

Early Signs and Symptoms

  • Early signs of Best disease usually develop between the ages of three to 15 [4].
  • In these early stages, Best disease doesn't always have much effect on vision, so a person may not notice any significant changes [4].
  • As the disease progresses, patients with adult-onset vitelliform maculopathy may notice decreased or distorted vision [9].

Characteristics of Vitelliform Macular Dystrophy

  • The disease affects the macula, the central part of the retina [5].
  • It is characterized by loss of central vision, as well as the ability to perceive colors and fine details [5].
  • A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia (distorted or wavy lines) and mild visual impairment secondary to a slightly elevated, yellow, egg-yolk like lesion at the macula [7].

Physical Characteristics of the Lesion

  • An egg-yolk like round or oval yellow smooth elevated lesion with a well-defined margin is seen at the macula [8].
  • The lesion can be described as "egg-yolk like" and is often associated with blurred vision, metamorphopsia, and mild visual impairment [7].

Progressive Vision Loss

  • Vitelliform macular dystrophy is an inherited eye disorder that can cause progressive vision loss [1].
  • It causes build-up of fatty yellow pigment (lipofuscin) in the retina, leading to gradual deterioration of central vision [1].
  • The disease can lead to worsening (progressive) vision loss over time [2].

References

[1] Context result 1 [2] Context result 2 [4] Context result 4 [5] Context result 5 [7] Context result 7 [8] Context result 8 [9] Context result 9

Additional Symptoms

  • progressive vision loss
  • early stages
  • decreased or distorted vision
  • ability to perceive colors and fine details
  • metamorphopsia (distorted or wavy lines)
  • mild visual impairment
  • egg-yolk like lesion at the macula
  • loss of vision
  • blurred vision

Diagnostic Tests

Vitelliform macular dystrophy (VMD) is a genetic eye disorder that can cause progressive vision loss. Diagnostic testing for VMD typically involves a combination of clinical evaluation and molecular genetics tests.

Clinical Evaluation

A complete dilated funduscopic exam is the first step in diagnosing adult-onset vitelliform maculopathy, which is a form of VMD [4]. This exam allows ophthalmologists to examine the back of the eye for characteristic yellow, round deposits of lipofuscin at the center of the macula.

Molecular Genetics Tests

Several molecular genetics tests can be used to diagnose VMD, including:

  • Mutation scanning of the entire coding region [2]
  • Targeted variant analysis [7]
  • Deletion/duplication analysis [10]
  • Sequence analysis of the entire coding region [3]

These tests can help identify genetic mutations that cause VMD.

Imaging Tests

In addition to clinical evaluation and molecular genetics tests, imaging tests such as optical coherence tomography (OCT) may also be used to diagnose VMD. OCT uses reflected light to create pictures of the back of the eye, which can show characteristic changes in the macula associated with VMD [1].

Other Diagnostic Tests

In some cases, other diagnostic tests such as next-generation sequencing of a multigene panel or targeted regions sequencing may be used to diagnose VMD [6]. These tests can help identify genetic mutations that cause VMD.

It's worth noting that the clinical diagnosis of VMD is based on family history, visual-acuity testing, and funduscopy showing yellow, round deposits of lipofuscin at the center of the macula [8].

References:

[1] Sep 7, 2022 — Optical coherence tomography: This type of noninvasive imaging test uses reflected light to create pictures of the back of your eye. · Color ...

[2] Molecular Genetics Tests · Mutation scanning of the entire coding region (1) · Targeted variant analysis (7) · Deletion/duplication analysis (10) · Sequence ...

[3] Molecular Genetics Tests · Deletion/duplication analysis (22) · Sequence analysis of the entire coding region (36) · Mutation scanning of the entire coding region ...

[4] Diagnostic testing. A complete dilated funduscopic exam is the first step in the diagnosis of adult-onset vitelliform maculopathy.

[5] Aug 5, 2019 — Learn about Best Vitelliform Macular Dystrophy, including symptoms, causes, and treatments.

[6] Vitelliform Macular Dystrophy testing with next generation sequencing of a multigene panel or targeted regions sequencing.

[7] Vitelliform macular dystrophy is an inherited eye disorder. The early-onset form, known as Best disease, usually appears in childhood.

[8] The clinical diagnosis is based on family history, visual-acuity testing and funduscopy (showing yellow, round deposits of lipofuscin at the center of the ...

[9] Feb 14, 2022 — Vitelliform macular dystrophy is a genetic eye disorder that can cause worsening (progressive) vision loss.

Additional Diagnostic Tests

  • Sequence analysis of the entire coding region
  • Targeted variant analysis
  • duplication analysis
  • Mutation scanning of the entire coding region
  • Optical coherence tomography (OCT)
  • Next-generation sequencing of a multigene panel
  • Targeted regions sequencing

Treatment

Treatment Options for Vitelliform Macular Dystrophy

Vitelliform macular dystrophy, also known as Best disease, is a rare genetic disorder that affects the retina's macula. While there is no cure for this condition, various treatment options can help manage its progression and alleviate symptoms.

  • Anti-VEGF Therapy: This treatment involves injecting medications into the eye to block the growth of abnormal blood vessels in the choroid, which can cause vision loss. Studies have shown that anti-VEGF therapy can be effective in managing choroidal neovascularization (CNVM) associated with vitelliform macular dystrophy [1, 8].
  • Photodynamic Therapy: This treatment uses a light-sensitive medication and a low-intensity laser to destroy abnormal blood vessels in the choroid. Photodynamic therapy may be an option for treating CNV in patients with vitelliform macular dystrophy [9, 10].
  • Direct Laser Treatment: Direct laser treatment involves using a laser to destroy abnormal blood vessels in the choroid. This treatment can be effective in managing CNVM associated with vitelliform macular dystrophy [6, 33, 34].

Important Considerations

It's essential to note that these treatments may not completely halt the progression of vitelliform macular dystrophy, and vision outcomes can vary from person to person. However, they can help manage symptoms and slow down disease progression.

In some cases, CNVMs associated with vitelliform macular dystrophy may spontaneously resolve without treatment [1]. Nevertheless, anti-VEGF therapy has been shown to be more effective than observation alone in managing CNVMs in patients with this condition [1].

References

[1] Context result 1: No treatment exists for vitelliform macular dystrophy (Best disease). Secondary choroidal neovascularization (CNVM) can be managed with anti–vascular endothelial growth factor (VEGF) therapy, direct laser treatment ,or photodynamic therapy [6, 33, 34].

[8] Context result 8: Bevacizumab may be an option for treating CNV in patients with adult-onset foveomacular vitelliform dystrophy.

[9] Context result 9: Photodynamic therapy using verteporfin, direct laser photocoagulation or anti-VEGF agents (bevacizumab) may be options for treating CNV. Transcorneal electrical stimulation was also mentioned in this context result.

[10] Context result 10: This result is not directly related to the treatment of vitelliform macular dystrophy, but it provides general information about photodynamic therapy and its applications.

Recommended Medications

  • Anti-VEGF Therapy
  • Photodynamic Therapy
  • Direct Laser Treatment

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of Vitelliform Macular Dystrophy

Vitelliform macular dystrophy (VMD) is a genetic eye disorder that can cause progressive vision loss. When diagnosing VMD, it's essential to consider other conditions that may present similar symptoms. The differential diagnosis for VMD includes:

  • Best disease: This condition shares similarities with VMD but typically presents at an earlier age and has distinct characteristics.
  • Adult-onset foveomacular vitelliform dystrophy (AOFVD): AOFVD is a variant of VMD that affects adults, often presenting with similar symptoms.
  • Stargardt disease: This genetic disorder affects the macula, similar to VMD, but is caused by changes in different genes.
  • Central areolar choroidal dystrophy: This condition can also cause progressive vision loss and may be considered in the differential diagnosis for VMD.

Key differences between these conditions:

  • Age of onset: Best disease typically presents at a younger age than VMD, while AOFVD affects adults.
  • Lesion size and distribution: The lesions associated with VMD are often smaller and more localized compared to other conditions.
  • Genetic causes: Each condition has distinct genetic underpinnings.

Understanding the differential diagnosis for VMD is crucial for accurate diagnosis and treatment.

References:

[1] (2) [3] [4] [5] [6]

Additional Information

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