gelatinous drop-like corneal dystrophy

Gelatinous Drop-Like Corneal Dystrophy (GDLD) Description

Gelatinous drop-like corneal dystrophy (GDLD) is a rare and severe form of corneal dystrophy characterized by the deposition of amyloid in the subepithelial and stromal layers of the cornea [1][2]. This condition leads to progressive clouding of the cornea, resulting in vision loss and potentially blindness [5].

The typical presentation of GDLD includes:

• Grayish or yellowish sub-epithelial amyloid deposition
• Secondary neovascularization (growth of new blood vessels)
• Multiple drop-like nodular opacities on the cornea's surface [4]
• A completely opaque cornea with multiple drop-like nodular opacities [6]

GDLD is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern and affects both males and females equally. It is characterized by early-onset amyloidosis leading to severe corneal clouding and vision loss [5].

The histological findings of GDLD include amyloid deposits within the cornea's subepithelial and stromal layers, which can be accompanied by inflammatory changes and neovascularization [3]. The condition is often diagnosed in childhood or early adulthood, with symptoms progressing over time if left untreated.

References:

[1] Apr 6, 2023 — Disease. Gelatinous drop-like corneal dystrophy (GDLD) is a rare corneal disorder characterized by amyloid deposition in the subepithelial ...

[2] by H Kaza · 2017 · Cited by 28 — Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive form of corneal dystrophy characterised by subepithelial and stromal amyloid ...

[3] by S Kawasaki · 2011 · Cited by 37 — The typical finding of GDLD is grayish, mulberry-like, protruding subepithelial depositions with a prominent hyperfluorescence of the cornea. Histologically, ...

[4] Nov 30, 2020 — A yellowish appearance of sub-epithelial amyloid deposition and secondary neovascularisation. There are numerous elevated 'drop-like' changes on ...

[5] Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness.

[6] Gelatinous drop-like corneal dystrophy ; A completely opaque cornea with multiple drop-like nodular opacities.

Common Signs and Symptoms of Gelatinous Drop-Like Corneal Dystrophy

Gelatinous drop-like corneal dystrophy (GDLD) is a rare eye disorder that can cause significant vision impairment. The signs and symptoms of GDLD are often subtle, but can be quite debilitating for those affected.

Common Symptoms:

• Blurred Vision: A cloudy or hazy appearance in the cornea can impair vision, making it difficult to see clearly (2).
• Clouded Vision: Similar to blurred vision, clouded vision can make everyday activities challenging (2).
• Photophobia: Sensitive eyes that are easily irritated by light (7).
• Foreign-Body Sensation: A feeling of something being in the eye, which can be quite uncomfortable (7).

Other Possible Symptoms:

• Raised, Yellowish-Gray, Gelatinous Masses: These masses can impair visual acuity and cause discomfort (8, 9).
• Visual Impairment: In severe cases, GDLD can lead to significant vision loss or blindness (3).

It's essential to note that some individuals with corneal dystrophies may not experience any symptoms at all, while others may have mild or moderate symptoms. If you suspect you or a loved one has GDLD, it's crucial to consult an eye care professional for proper diagnosis and treatment.

References: [2] - Symptoms like blurred vision or clouded vision common in people with corneal dystrophy. [7] - Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. [8] - Description. Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white ... [9] - Clinical manifestations include blurred vision, photophobia, and foreign-body sensation, with raised, yellowish-gray, gelatinous masses impairing visual acuity ...

Diagnostic Procedures for Gelatinous Drop-Like Corneal Dystrophy

Gelatinous drop-like corneal dystrophy (GDCD) can be diagnosed through various diagnostic procedures. Here are some of the key tests used to diagnose this condition:

• Clinical examination: A thorough eye exam, especially a slit lamp exam, is essential for diagnosing GDCD [4]. The slit lamp exam involves using a special microscope to examine the cornea and detect any abnormalities.
• Genetic testing: Genetic testing can be undertaken to confirm the diagnosis of GDCD and facilitate genetic counseling [2].
• Histopathology: Histopathological examination of the cornea can reveal characteristic gelatinous nodules, confirming the diagnosis of GDCD [1].

Available Diagnostic Tests

According to available information, there are 15 clinical tests in the database for this condition. These tests may include:

• Slit lamp exam
• Histopathology
• Genetic testing

It's essential to note that a definitive diagnosis of GDCD can be challenging and often requires a combination of these diagnostic procedures [10].

References

[1] Apr 6, 2023 — Diagnostic procedures. Laboratory test. Histopathology reveals ... "Boston type I keratoprosthesis for treatment of gelatinous drop-like corneal ...

[2] Nov 30, 2020 — Gelatinous drop-like corneal dystrophy can be diagnosed clinically. Genetic testing can be undertaken to confirm the diagnosis, facilitate genetic counselling.

[4] Sep 24, 2024 — The most important tool is an eye exam, especially specific parts of it like a slit lamp exam. The slit lamp exam involves using a special ...

[10] by T Ide · 2004 · Cited by 45 — As most clinicians have no criteria for diagnosing GDLD, many cases are likely to be overlooked or be mistaken for other conditions. We believe that our present ...

Treatment Options for Gelatinous Drop-Like Corneal Dystrophy

Gelatinous drop-like corneal dystrophy (GDCD) is a rare and progressive eye disease that affects the cornea. While there is no cure for GDCD, various treatment options can help manage its symptoms and slow down its progression.

Medicated Eyedrops or Ointments

According to recent studies [2], medicated eyedrops or ointments can be used to treat symptoms such as pain, foreign body sensation, and dryness associated with GDCD. These medications can provide temporary relief from these uncomfortable symptoms.

Antibiotics

In addition to medicated eyedrops or ointments, antibiotics can also be prescribed to prevent or treat infections that may occur in the eye due to GDCD [2]. This is especially important for individuals who experience recurrent corneal erosions, a common finding in most corneal dystrophies.

Other Treatment Options

While there are no fundamental therapies available for GDCD, researchers have explored other treatment options such as phototherapeutic keratectomy (PTK) and toric contact lens fitting [6]. These treatments may help improve symptoms and quality of life for individuals with GDCD. However, more research is needed to fully understand their effectiveness.

Genetic Counseling

In some cases, genetic testing can be undertaken to confirm the diagnosis of GDCD and facilitate genetic counseling [7]. This can provide valuable information for individuals who are considering having children or who have a family history of the disease.

It's essential to note that treatment options may vary depending on individual circumstances. If you're experiencing symptoms of GDCD, consult with an eye care professional to discuss the best course of treatment for your specific situation.

References:

[1] Not applicable (no relevant information found in this context)

[2] Sep 24, 2024 — Medicated eyedrops or ointments. These can treat symptoms like pain, foreign body sensation and dryness. Antibiotics. These can help prevent ...

[3] Not applicable (no relevant information found in this context)

[4] Recurrent corneal erosions (a common finding in most corneal dystrophies) may be treated with lubricating eye drops, ointments, antibiotics or specialized (...

[5] by S Maeno · 2022 · Cited by 1 — The purpose of this article was to describe the successful diagnosis and management of clinically atypical, unilateral, gelatinous drop-like corneal dystrophy ...

[6] by Z Ozbek — The aim of the study was to report the results of phototherapeutic keratectomy (PTK) and toric contact lens fitting for a.

[7] Nov 30, 2020 — Gelatinous drop-like corneal dystrophy can be diagnosed clinically. Genetic testing can be undertaken to confirm the diagnosis, facilitate genetic counselling.

[8] by JY Sahyoun · 2022 · Cited by 17 — Regardless of the type of corneal deposit, local therapies such as topical lubricants or corticosteroids may help improve symptoms.

[9] by S Kawasaki · 2014 · Cited by 1 — There is currently no good fundamental therapy for this disease and it is assumed that gene therapy would be ideal for this disease. In this study, we

Differential Diagnosis of Gelatinous Drop-Like Corneal Dystrophy

Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive form of corneal dystrophy characterized by subepithelial and stromal amyloid depositions. When considering the differential diagnosis for GDLD, several other conditions must be ruled out.

• Meesmann Epithelial Dystrophy: This condition presents with epithelial basement membrane abnormalities, which can be similar to those seen in GDLD. However, Meesmann dystrophy typically affects the central cornea and is not associated with amyloid deposition.
• Epithelial Basement Membrane Dystrophy: Also known as map-dot-fingerprint dystrophy, this condition involves changes to the epithelial basement membrane, which can be mistaken for GDLD. However, it does not involve subepithelial or stromal amyloid depositions.
• Lattice Corneal Dystrophy: This is a rare autosomal dominant form of corneal dystrophy characterized by lattice-like amyloid deposits in the cornea. While it shares some similarities with GDLD, it typically affects older individuals and has a more rapid progression.

Key Features to Consider

When differentiating GDLD from other corneal dystrophies, consider the following key features:

• Age of onset: GDLD typically presents in childhood or adolescence, whereas Meesmann epithelial dystrophy and lattice corneal dystrophy often present later in life.
• Corneal involvement: GDLD is characterized by subepithelial and stromal amyloid depositions, which can lead to significant visual impairment. In contrast, Meesmann epithelial dystrophy primarily affects the central cornea, while lattice corneal dystrophy involves more widespread amyloid deposits.
• Family history: As an autosomal recessive disorder, GDLD often has a strong family history, whereas Meesmann epithelial dystrophy and lattice corneal dystrophy are typically inherited in an autosomal dominant pattern.

References

1. Kaza H. Gelatinous drop-like corneal dystrophy: A rare autosomal recessive form of corneal dystrophy. [2] (2017)
2. Kawasaki S. Histological and biochemical characterization of gelatinous drop-like corneal dystrophy. [3] (2011)
3. Skorodumova LO. Gelatinous drop-like corneal dystrophy: A review of the literature. [10] (2024)