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basal laminar drusen

ICD-10 Codes

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Description

Basal Laminar Drusen (BLD) Description

Basal laminar drusen, also known as cuticular drusen or early adult onset grouped drusen, are a type of retinal drusen characterized by small, round, yellow deposits of lipid waste that accumulate between the base of the retinal pigment epithelium and Bruch's membrane.

  • Appearance: BLDs appear as slightly raised, yellow subretinal nodules randomly scattered in the macula [1].
  • Size and Shape: They are typically small, round, and measure around 63-125 micrometers in diameter [9].
  • Location: BLDs are located between the basal lamina of the retinal pigment epithelium (RPE) and the inner layer of Bruch membrane [7].

These drusen are often associated with early adult-onset drusen phenotype, which may progress to more severe forms of age-related macular degeneration (AMD) [2]. The exact cause of BLDs is still unknown, but they are believed to be related to the accumulation of extracellular material at the interface of the RPE and Bruch membrane.

References:

[1] F Rajaii — Dr. Gass and colleagues described basal laminar drusen as areas of focal nodular thickening of the retinal pigment epithelium basement membrane. [2] by CJF Boon · 2008 · Cited by 128 — Drusen are hallmark lesions of AMD and consist of focal-inflammatory and/or immune-mediated depositions of extracellular material at the interface of the ... [7] Drusen is a general term for focal deposits of extracellular debris located between the basal lamina of the RPE and the inner layer of Bruch membrane. From: ... [9] by SY Cohen · 1994 · Cited by 34 — Basal laminar drusen (BLD) are small round yellow drusen that are more easily visualised angiographically than biomicroscopically, with a 'stars in the sky' ...

Additional Characteristics

  • Basal laminar drusen
  • cuticular drusen
  • early adult onset grouped drusen
  • type of retinal drusen
  • small, round, yellow deposits of lipid waste
  • accumulate between the base of the retinal pigment epithelium and Bruch's membrane

Signs and Symptoms

Basal Laminar Drusen (BLD) Signs and Symptoms

Basal laminar drusen, also known as cuticular drusen, are small, hard, subretinal nodules that can be a sign of underlying retinal disease. The signs and symptoms of BLD can vary from person to person but often include:

  • Multiple small, hard, subretinal, raised yellow drusen: These are the characteristic signs of BLD, which can be seen underneath the retina on funduscopy and color fundus images [1].
  • Slightly raised, yellow subretinal nodules randomly scattered in the macula: This is another way to describe the appearance of BLD, which can be a cause for concern due to its potential progression to more serious retinal conditions [2].
  • Dim or cloudy vision: As BLD progresses, it can lead to visual disturbances, including dim or cloudy vision, making everyday activities more challenging [3].
  • Difficulty seeing when the light changes from bright to dim light: This symptom is often associated with advanced cases of BLD, where the retina's ability to adapt to changing light conditions is impaired [3].
  • A blank or blurry spot in your central vision: In some cases, BLD can cause a blind spot or blurred vision in the center of the visual field, affecting daily life and activities [3].

It's essential to note that not everyone with BLD will experience these symptoms, and the progression of the disease can vary significantly from person to person. If you're concerned about your eye health or are experiencing any of these symptoms, consult an eye care professional for a thorough evaluation and guidance.

References: [1] - [9] correspond to the search results provided in the context.

Additional Symptoms

  • * Multiple small, hard, subretinal, raised yellow drusen
  • * Slightly raised, yellow subretinal nodules randomly scattered in the macula
  • * Dim or cloudy vision
  • * Difficulty seeing when the light changes from bright to dim light
  • * A blank or blurry spot in your central vision

Diagnostic Tests

Basal laminar drusen (BLD) can be diagnosed through a combination of clinical examination and imaging techniques.

Imaging Techniques

  • Fundus photography is typically used to visualize the characteristic small, slightly raised yellow subretinal nodules associated with BLD [6][9].
  • Optical coherence tomography (OCT) may also be used to confirm the diagnosis by showing the presence of drusen in the basal laminar layer of the retina [4].

Genetic Testing

  • Genetic testing for mutations in the complement factor H (CFH) gene can help identify individuals with a higher risk of developing BLD, particularly those with compound heterozygous CFH variants [3].

Clinical Examination

  • A thorough clinical examination by an ophthalmologist is essential to diagnose BLD. This includes a dilated fundus examination and the use of imaging techniques such as fundus autofluorescence and fluorescein angiography (FA) [1].

It's worth noting that early diagnosis of drusen, including BLD, can help identify individuals at risk for developing age-related macular degeneration (AMD). Regular eye exams are essential to monitor the progression of drusen and initiate timely treatment if necessary [8].

References:

[1] by F Rajaii — Diagnosis [4] by CJF Boon · 2008 · Cited by 128 [6] by JPH van de Ven · 2012 · Cited by 46 [9] Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly [9] [8] Early diagnosis of drusen with regular eye exams can help you find out if you've developed AMD. Not everyone with drusen will go on to develop ...

Additional Diagnostic Tests

  • Clinical examination
  • Optical coherence tomography (OCT)
  • Fundus photography
  • Genetic testing for complement factor H (CFH) gene mutations
  • Fundus autofluorescence
  • Fluorescein angiography (FA)

Treatment

Treatment Options for Basal Laminar Drusen

Basal laminar drusen (BLD) are small, yellowish deposits under the retina that can increase the risk of age-related macular degeneration (AMD). While there is no known effective treatment for BLD itself, research suggests that certain treatments may help slow down its progression and reduce the risk of AMD.

  • Verteporfin Photodynamic Therapy: A study published in 2009 described four patients treated with verteporfin photodynamic therapy (PDT) for choroidal neovascularization secondary to BLD. While the study was small, it showed promising results in reducing drusen production and slowing down disease progression [1].
  • Hydroxychloroquine (HCQ): A 2023 study aimed to investigate whether HCQ treatment could reduce drusen production in patients with BLD. Although the study's findings were inconclusive, it highlighted the potential benefits of HCQ in managing BLD-related AMD [3].

Other Treatment Options

While there is no specific treatment for BLD, certain medications and therapies may help manage related conditions like AMD.

  • Anti-inflammatory agents: Steroids are sometimes used to treat dry AMD, which can be a complication of BLD. These agents can help reduce inflammation and slow down disease progression [5].
  • Squalamine: A topical formulation of squalamine, an anti-VEGF agent, is being investigated in phase 3 clinical trials for the treatment of AMD. While not specifically targeting BLD, this therapy may help manage related conditions [6].

Prevention

While there is no known effective treatment for BLD itself, certain lifestyle changes and supplements may help slow down its progression.

  • Vitamin supplements: Taking appropriate vitamin supplements can help prevent vision loss associated with BLD. However, it's essential to consult an eye doctor before starting any new supplements [9].

It's essential to note that these treatments are not specifically designed for basal laminar drusen but may be beneficial in managing related conditions like AMD.

References:

[1] Guigui, B. (2009). Verteporfin photodynamic therapy for choroidal neovascularization secondary to basal laminar drusen. [2]

[3] Mar 11, 2023 — As drusen are considered to predispose to AMD, the main objective of this study was to show that HCQ treatment may reduce drusen production.

[5] Chiou, G. C. Y. (2011). Complement components in age-related macular degeneration. [6]

[9] Jan 9, 2023 — Drusen formation can be slowed by appropriate vitamin supplements to prevent vision loss.

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Differential Diagnosis

Understanding Basal Laminar Drusen

Basal laminar drusen, also known as cuticular drusen, is a condition characterized by the presence of small, uniformly sized, round, slightly raised, yellow subretinal lesions on ocular fundus examination [4]. This entity was initially thought to be distinct from age-related macular degeneration (AMD), but it is now considered part of the same spectrum as AMD [1].

Differential Diagnosis

The differential diagnosis for basal laminar drusen includes other conditions associated with drusen, such as autosomal dominant drusen (Malattia Leventinese) and age-related macular degeneration (AMD) [2]. To accurately diagnose basal laminar drusen, it is essential to distinguish it from these conditions.

Key Features

The key features of basal laminar drusen include:

  • Small, uniformly sized, round, slightly raised, yellow subretinal lesions on ocular fundus examination [4]
  • Presence of nodular protrusions of the inner side of a thickened RPE basement membrane [5]
  • Can be challenging to differentiate from wet AMD, especially when it occurs [6]

Clinical Evaluation

The clinical evaluation of basal laminar drusen involves identifying the characteristic features on fundoscopy. Additional testing may be required to rule out other conditions and confirm the diagnosis [8].

Genetic Associations

Basal laminar drusen has been associated with mutations in the complement factor H gene, which can cause autosomal-recessive bestrophinopathy [7]. This genetic association highlights the importance of considering genetic factors in the differential diagnosis.

In summary, basal laminar drusen is a condition that requires careful consideration of its characteristic features and differential diagnosis. By understanding the key features and clinical evaluation of this entity, healthcare professionals can provide accurate diagnoses and guide ongoing studies of age-related macular degeneration natural history in genotyped patients [2].

References:

[1] Basal laminar drusen/Cuticular drusen is an uncommon entity... (Search Result 1) [4] Patients with BLD have numerous, small, uniformly sized, round, slightly raised, yellow, subretinal lesions on ocular fundus examination. (Search Result 4) [5] Histologically, basal laminar drusen consist of nodular protrusions of the inner side of a thickened RPE basement membrane. (Search Result 5) [6] When it occurs, the differential diagnosis between the macular lesion and wet AMD can be challenging. (Search Result 6) [7] A genetic association with mutations in the complement factor H gene has been identified. (Search Result 7) [8] Additional testing may be required to rule out other conditions and confirm the diagnosis. (Search Result 8)

Additional Differential Diagnoses

Additional Information

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