corneal dystrophy

What is Corneal Dystrophy?

Corneal dystrophy refers to a group of genetic, often progressive, eye disorders in which abnormal material accumulates in the clear outer layer of the eye, known as the cornea [6]. This accumulation can lead to a loss of clarity in one or more parts of the cornea, resulting in vision impairment and discomfort.

Types of Corneal Dystrophy

There are several types of corneal dystrophies, including epithelial basement membrane dystrophy, gelatinous drop-like corneal dystrophy, lattice corneal dystrophy, map-dot-fingerprint dystrophy, and posterior polymorphous corneal dystrophy [1-5]. Each type has distinct characteristics and symptoms.

Symptoms of Corneal Dystrophy

The symptoms of corneal dystrophies can vary depending on the type. Some common symptoms include:

• Eye pain that worsens in the morning and improves later in the day
• Feeling like there's something in your eye
• Blurred vision or vision loss due to corneal opacity
• Corneal erosion, which occurs when the outer layer of the cornea is not attached correctly and starts to erode [2-3]

Causes and Progression

Corneal dystrophies are caused by abnormal cellular function and development in the cornea. The progression of these disorders can be slow and may lead to significant vision impairment if left untreated.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [6] Context result 6

Corneal Dystrophy Signs and Symptoms

Corneal dystrophies are a group of rare, genetic diseases that affect the cornea, the front part of your eye. The symptoms of corneal dystrophies result from the accumulation of abnormal material within the cornea, leading to various visual disturbances.

Common Symptoms:

• Blurred or cloudy vision [8]
• Decreased vision and eye discomfort or pain [9]
• Sensitivity to light
• Watery or dry eyes
• Glare

Types of Corneal Dystrophy:

There are more than 20 types of corneal dystrophies, each with different symptoms. Some people experience no symptoms at all.

• Epithelial basement membrane dystrophy, which usually happens in adulthood [11]
• Gelatinous drop-like corneal dystrophy, which can happen any time before age 20 [11]

Causes and Treatment:

Corneal dystrophies are caused by genetic mutations or eye injuries. Symptoms depend on the specific condition. Treatments range from eye drops to corneal transplant surgery, depending on the condition's severity.

• Faulty endothelial cells can cause excess fluids to build up in your cornea, leading to swelling and thickening [6]
• Corneal dystrophies can be treated with medications, special contact lenses, laser surgery, or corneal transplants [15]

References:

[3] The symptoms of corneal dystrophies result from the accumulation of abnormal material within the cornea, leading to various visual disturbances. [4] Some people experience no symptoms at all. [5] Symptoms can include eye pain, grittiness or discomfort, dryness, sensitivity to light and blurry vision. [6] Faulty endothelial cells can cause excess fluids to build up in your cornea, leading to swelling and thickening. [8] Blurred or cloudy vision is the most common sign of corneal dystrophy. [9] Symptoms include decreased vision and eye discomfort or pain. [11] Epithelial basement membrane dystrophy usually happens in adulthood, while gelatinous drop-like corneal dystrophy can happen any time before age 20. [15] Corneal dystrophies can be treated with medications, special contact lenses, laser surgery, or corneal transplants.

Diagnostic Tests for Corneal Dystrophy

Corneal dystrophy is a group of rare genetic eye disorders that can cause cloudy or blurred vision. Diagnosing corneal dystrophy requires a comprehensive examination and various diagnostic tests.

• Slit Lamp Microscope Exam: This microscope beams a thin, bright sheet of light into the eye to assess corneal swelling or irregular bumps (guttae) [11]. A slit lamp exam is often used to examine the front part of the eye thoroughly.
• Corneal Tomography and Topography: These tests create detailed maps of the cornea's surface and thickness, helping doctors identify any abnormalities [11].
• Visual Acuity Test: This common eye chart test measures a person's ability to see objects at a distance [3]. A visual acuity test can help diagnose corneal dystrophy by assessing vision loss.
• Cornea Examination and Grading: An eye care professional uses a special microscope called a slit lamp to examine the cornea for drop-shaped bumps called guttae on the back surface of the cornea [4].
• Genetic Testing: Genetic testing can confirm the specific type of corneal dystrophy present, leading to more accurate and personalized treatment [13][15]. This test analyzes genes associated with corneal dystrophies.

These diagnostic tests help doctors identify the presence of corneal dystrophy and determine its severity. Early diagnosis is crucial for effective management and vision-saving treatments.

References: [3] - A hazy, rather than a clear, cornea; Bumps on the back surface of the cornea; Corneal thickening; High pressure in the eye; Diagnostic tests may include: Visual acuity test: This common eye chart test ... [4] - Diagnosis. An eye care professional will test your vision. You also may have tests to help diagnose Fuchs dystrophy. Those tests may include: Cornea examination and grading. A member of your eye care team will use a special eye microscope called a slit lamp to look for guttae on the back surface of the cornea. [11] - Tests to help diagnose corneal dystrophy include: Slit lamp microscope exam. This microscope beams a thin, bright sheet of light into the eye and will help your doctor assess corneal swelling or irregular bumps (guttae). Corneal tomography and topography. [13] - In the United States, less than 0.1% of Americans are affected by corneal dystrophies. 1 Despite this rarity, it is essential to accurately diagnose these conditions to gain prognostic insight and, if indicated, initiate vision-saving management. Genetic testing for corneal dystrophies facilitates diagnosis, due to current diagnostic challenges and the inherent genetics of most corneal ... [15] - Genetic testing can confirm the specific type of corneal dystrophy present, leading to more accurate and personalized treatment. Genetic testing for corneal ...

Medications for Corneal Dystrophy

Corneal dystrophy can be treated with various medications to alleviate symptoms and slow down tissue degeneration. The treatment options depend on the severity of the condition and the affected corneal layer.

• Eye drops and ointments: These are commonly used to reduce swelling, minimize pain, and promote healing in the cornea. Examples include hypertonic saline, diclofenac eye drops, and lubricating eye drops.
• Antibiotics: In cases of recurrent corneal erosion or infection, antibiotics may be prescribed to treat bacterial infections.
• Lubricating eye drops: These can help reduce dryness and irritation in the eyes by keeping the cornea moist.

According to [1], hypertonic saline is believed to increase adherence of epithelium to the underlying stroma. Additionally, diclofenac eye drops have been suggested as a treatment for corneal dystrophy in patients whose disease is caused by some SLC4A11 missense mutations [3].

Other medications that may be used to treat corneal dystrophy include:

• Prednisolone acetate: A corticosteroid that can reduce inflammation and swelling in the cornea.
• Loteprednol: Another corticosteroid that can help alleviate symptoms of corneal dystrophy.

It's essential to note that the exact treatment recommended by a physician depends on the severity of symptoms. In some cases, no treatment may be necessary if the disease is asymptomatic or mild [14].

References:

[1] Apr 4, 2023 — Medical therapy for recurrent corneal erosions includes hypertonic saline, which is believed to increase adherence of epithelium to the underlying stroma. [3] by K Alka · 2018 · Cited by 29 — These results encourage testing diclofenac eye drops as a treatment for corneal dystrophy in patients whose disease is caused by some SLC4A11 missense ... [6] by DH Dang · 2022 · Cited by 45 — A variety of commonly used agents, including prednisolone acetate, loteprednol, difluprednate, dexamethasone, fluorometholone, and methylprednisolone are ...

Differential Diagnosis of Corneal Dystrophy

Corneal dystrophy refers to a group of rare, hereditary non-inflammatory disorders that affect the cornea, leading to abnormal deposition of substances and opacification. When diagnosing corneal dystrophy, it's essential to consider various differential diagnoses to rule out other eye conditions.

Common Differential Diagnoses

• Congenital Glaucoma: A condition present at birth, characterized by increased intraocular pressure, which can cause corneal edema and opacification.
• Mucopolysaccharidoses: A group of genetic disorders that affect the production of mucopolysaccharides, leading to corneal clouding and other systemic symptoms.
• Keratitis from Rubella: An inflammatory condition caused by the rubella virus, which can lead to corneal opacification and vision loss.
• Sclerocornea: A rare congenital disorder characterized by a thickened sclera and cornea, leading to corneal opacification.

Other Differential Diagnoses

• Fungal, Bacterial, or Viral Keratitis: Infections that can cause corneal inflammation and opacification.
• Vapor Spray Keratitis: A condition caused by exposure to vapor spray, which can lead to corneal damage and opacification.
• Monoclonal Gammopathy: A rare disorder characterized by the production of abnormal proteins, which can affect the cornea.

Importance of Differential Diagnosis

Accurate differential diagnosis is crucial in identifying corneal dystrophy. Misdiagnosis or delayed diagnosis can lead to inappropriate treatment and worsening of symptoms. A thorough examination and consultation with a corneal specialist are essential for accurate diagnosis and management of corneal dystrophy.

References:

• [3] Central stromal crystalline dystrophy: Also called Schnyder corneal dystrophy Disease maps to 1p34-p32 Crystals of cholesterol ester in anterior stroma.
• [7] by JS Weiss · 2011 · Cited by 47 — The differential diagnosis of the SCD patient includes other diseases with crystalline deposits such as cystinosis, tyrosinemia, Bietti crystalline dystrophy, ...
• [14] by GK Klintworth · 2009 · Cited by 430 — Differential diagnosis​​ MECD needs to be differentiated from other disorders of the corneal epithelium, such as vapor spray keratitis, mild ...