granular corneal dystrophy 2

Granular Corneal Dystrophy Type 2 (GCD2)

Granular Corneal Dystrophy Type 2 (GCD2) is a rare, inherited condition that affects the stromal layer of the cornea. It is characterized by well-demarcated granular deposits in the central anterior stroma, which can cause discomfort and/or pain in the eye due to corneal epithelial irritation.

Key Features:

• Age of onset: Lesions appear within the first decade of life and may be evident by 3 years of age [1].
• Corneal opacities: Discrete grayish-white, irregular granules with sharp margins are present in the anterior stroma of the central cornea [8].
• Progression: As the disease progresses, extrusion of the deposits results in ocular pain and visual impairment [4].
• Inheritance: GCD2 is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to cause the disorder [6].

Symptoms:

• Corneal erosions starting in the first decade are likely to be seen if patients are symptomatic [7].
• Visual impairment usually presents in the 5th decade of life.
• Glare and recurrent corneal erosions can also occur due to the presence of granular deposits.

References:

[1] Reis-Bücklers CD: This dystrophy is characterized by crumb or flake-like opacities, with the spaces between the opacities clear of deposits [7]. [2] Type II presents with granular and lattice-like findings on the cornea [9]. [4] The peripheral cornea and areas between the opacities remain clear [8]. [6] GCD2 is caused by a p.Arg124His mutation of the transforming growth factor-beta 1 (TGFBI) gene [15].

Common Signs and Symptoms of Granular Corneal Dystrophy Type 2

Granular corneal dystrophy type 2, also known as Avellino corneal dystrophy, is a rare form of corneal dystrophy characterized by the development of granular deposits in the middle layer of the cornea. The symptoms and signs of this condition can vary from person to person but often include:

• Recurrent Corneal Erosions: One of the most common symptoms of GCD2 is recurrent corneal erosions, which can cause pain, redness, and irritation in the eye.
• Decreased Vision: As the disease progresses, patients may experience a decrease in visual acuity due to the formation of granular deposits in the cornea.
• Photophobia: Some individuals with GCD2 may experience sensitivity to light (photophobia).
• Corneal Erosions: Corneal erosions can occur when the epithelium, or front layer, of the cornea is detached from the rest of the eye. This can cause pain and discomfort.
• Visual Impairment: In advanced cases, GCD2 can lead to progressive visual impairment.

Age-Related Symptoms

The symptoms of GCD2 can vary depending on the age at which they occur:

• Childhood or Early Adulthood: Patients with GCD2 may present in childhood or early adulthood with white dots progressing to stellate-shaped opacities later in life.
• Adulthood: In some cases, patients may not experience symptoms until adulthood.

Other Symptoms

In addition to the above-mentioned symptoms, patients with GCD2 may also experience:

• Eye Pain: Some individuals may experience eye pain due to recurrent corneal erosions or other complications.
• Redness and Irritation: The eyes may appear red and irritated due to inflammation caused by corneal erosions.

References

[1] Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. [2] [3] Granular CD: If patients are symptomatic, corneal erosions starting in the first decade are likely to be seen. Visual imparity usually presents in the 5th decade of life. Biomicroscopy will present with crumb or flake-like opacities, with the spaces between the opacities clear of deposits (see figure 3).[4] [10] by HW ANDREWS — Symptoms that drive patients to the eye doctor are recurrent corneal erosion symptoms of redness, irritation, and eye pain, or decreased vision. [11] Apr 4, 2023 — Patients with granular corneal dystrophy (GCD) may have decreased vision, photosensitivity, and/or eye pain (from recurrent corneal ...

Diagnostic Tests for Granular Corneal Dystrophy 2

Granular corneal dystrophy type 2 (GCD2) is a rare form of stromal corneal dystrophy that can be diagnosed through various diagnostic tests. Here are some of the key diagnostic tests used to diagnose GCD2:

• Eye Exam: A comprehensive eye exam, especially with a slit lamp, is crucial in diagnosing GCD2. The presence of small white deposits on the cornea can be observed during this examination [9].
• Slit Lamp Exam: This specialized exam uses a high-intensity light to examine the cornea and other parts of the eye. It helps to identify the characteristic granular deposits associated with GCD2 [4].
• Anterior Segment Optical Coherence Tomography (OCT): OCT is a non-invasive imaging test that can demonstrate hyperreflective anterior stromal deposits with unreflective shadows, which are indicative of GCD2 [5].
• Genetic Testing: Genetic testing is the definitive method for confirming the diagnosis of GCD2. It involves analyzing the genetic material to identify the specific mutation (p.Arg124His) associated with this condition [7].

These diagnostic tests can help confirm the diagnosis of granular corneal dystrophy type 2 and rule out other conditions that may present similar symptoms.

References:

[4] - 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 light to examine the cornea and other parts of the eye. [5] - Anterior segment optical coherence tomography (OCT) may demonstrate hyperreflective anterior stromal deposits with unreflective shadows. [7] - Patients who were clinically suspected of corneal dystrophy need a genetic confirmatory testing for certain diagnosis. Genetic test may help to find the specific mutation associated with GCD2. [9] - Granular corneal dystrophy is often diagnosed during a routine eye exam when small white deposits will be observed on the cornea with a slit lamp.

Treatment Options for Granular Corneal Dystrophy Type 2

Granular corneal dystrophy type 2 (GCD2) is a rare genetic disorder that affects the cornea, leading to the deposition of abnormal material and causing vision problems. While there is no cure for GCD2, various treatment options are available to manage the symptoms and slow down disease progression.

Topical Medications

Effective topical medications have been identified as a solution to provide minimally invasive treatment to TGFBI CD patients, including those with GCD2 (Sciriha et al., 2023 [9]). These medications can inhibit the deposition of corneal material, thereby slowing down disease progression.

Hypertonic Saline

Medical therapy for recurrent corneal erosions associated with GCD2 includes hypertonic saline, which is believed to increase adherence of epithelium to the underlying stroma (Chang et al., 2023 [4]). This can help prevent further erosion and promote healing.

Antibiotic Drops and Ointments

Early treatment for GCD2 may include antibiotic drops or ointment, as well as bandage soft contact lenses with prescribed antibiotic drops (Han et al., 2010 [5]; Chang et al., 2023 [6]). These treatments can help protect the eye and promote healing.

Other Treatment Options

In some cases, more invasive treatments such as superficial keratectomy or phototherapeutic keratectomy (PTK) may be necessary to remove abnormal corneal material (Andrews, no date [7]). The choice between these two procedures should be made by a corneal surgeon.

Preventative Treatments

Preventative treatments such as sodium chloride drops or artificial tear lubricating drops can also be used to prevent recurrent corneal erosions in patients with GCD2 (Chang et al., 2023 [1]; Chang et al., 2023 [3]).

References:

[1] Apr 4, 2023 — Once the acute episode of recurrent erosions has resolved, preventive treatment may include sodium chloride 5% drops (eg, Muro 128) or ...

[3] Sodium chloride drops or artificial tear lubricating drops during the day. Lubricating ointment during night hours. If RCEs occur despite preventive treatment, ...

[4] Apr 4, 2023 — Medical therapy for recurrent corneal erosions includes hypertonic saline, which is believed to increase adherence of epithelium to the underlying stroma.

[5] by KE Han · 2010 · Cited by 50 — Objectives: To review the literature about clinical findings and treatments of granular corneal dystrophy type 2 (GCD2). Methods: Various literatures on ...

[6] Jan 6, 2024 — Bandage soft contact lenses with prescribed antibiotic drops and ointments to protect the eye and promote healing.

[7] by HW ANDREWS — If deposits are anterior, superficial keratectomy or PTK should be performed. The choice between the two must be made by the corneal surgeon.

[8] Early treatment can include antibiotic drops or ointment, as well as bandage soft contact lenses with prescribed antibiotic drops. Preventative treatments may ...

[9] by GG Sciriha · 2023 — Effective topical medications would be the solution to providing minimally invasive treatment to TGFBI CD patients in order to inhibit the deposition of corneal ...

Differential Diagnosis of Granular Corneal Dystrophy Type 2

Granular corneal dystrophy type 2 (GCD2) is a rare and inherited eye disorder that affects the cornea. When diagnosing GCD2, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for GCD2:

• Lattice Corneal Dystrophy: This condition also presents with granular or lattice-like deposits in the cornea, making it a key differential diagnosis for GCD2 [5].
• Granular Dystrophy Type 1: While this condition is distinct from GCD2, its symptoms can be similar, and it's essential to rule out type 1 when diagnosing GCD2 [10].
• Combined Granular-Lattice Corneal Dystrophy (Avellino): This condition was previously known as Avellino or combined granular-lattice corneal dystrophy and is now considered a subtype of GCD2. However, it's still essential to consider this differential diagnosis when evaluating patients with symptoms similar to GCD2 [9].
• Other Corneal Dystrophies: Various other corneal dystrophies can present with granular or lattice-like deposits in the cornea, making them potential differential diagnoses for GCD2.

Key Points

• Differential diagnosis is crucial when evaluating patients with symptoms similar to GCD2.
• Lattice corneal dystrophy and granular dystrophy type 1 are key differential diagnoses for GCD2.
• Combined granular-lattice corneal dystrophy (Avellino) was previously considered a separate condition but is now recognized as a subtype of GCD2.

References

[5] - The differential diagnosis of bilateral corneal opacities include granular dystrophy type 1 or lattice corneal dystrophy. [9] - Granular corneal dystrophy, type II (GCD2), formerly known as Avellino or combined granular-lattice corneal dystrophy, is an autosomal dominant condition. [10] - Differential Diagnosis. • Granular Dystrophy ... • DIAGNOSIS: Granular Dystrophy. Page 7. Dystrophy ... • Granular Corneal Dystrophy Type 2. • Lattice ...