Corneal Dystrophy

Corneal Dystrophy

Learn more about corneal dystrophy - what it is, its causes, types, symptoms, and tests for early detection.

Table of Contents

What Is Corneal Dystrophy?

Corneal Dystrophy is a group of hereditary diseases in which a specific grey-white protein accumulates in the cornea during recovery after a physical wound,  caused by abnormal operation of the repair mechanism due to a gene mutation.

Understand Corneal Dystrophy
  • Corneal Dystrophy is a worldwide disease.
  • It is a genetic eye disease wherein materials accumulate in the clear outer layer of your cornea.
  • During the recovery of LASIK or LASEK, Corneal Dystrophy symptoms may progress rapidly – wherein grey-white granular protein deposits appearing at various layers of the cornea, eventually leading to diminished vision and blindness.
  • Genetic testing provides the most accurate answer on whether or not you have corneal dystrophy.

Prevalence Of Corneal Dystrophy (For Avellino Corneal Dystrophy)


South Korea





Why Is It Important To Understand Corneal Dystrophy?

It is important to know about corneal dystrophy because it is a genetic disease that still has no cure. As there is no way to reverse the disease once it has progressed, it is important to delay the onset of the disease as much as possible.

What Are The Causes Of Corneal Dystrophy?

1. Genetic Factors

Corneal dystrophy is basically a genetic disorder. Even if no family member or relative has the corneal dystrophy mutation, the mutation can be passed on to the next generation.

2. Age

Corneal dystrophy can occur at various ages. Some types of corneal dystrophy manifest early in life even from birth or infancy, while others may not become apparent until later in childhood or adulthood. 
It is known that most cases occur around the age of 10. However, the timing of onset may vary due to individual genetic and environment factors. In fact, there have been reports of cases in which patients with corneal dystrophy mutations in their 30s and 70s do not show any symptoms. 

3. Environmental Factors

Ultraviolet light or physical injury of the cornea may exacerbate the symptoms or impact the progression of corneal dystrophy.

Types And Symptoms Of Corneal Dystrophy


1. Heterozygote

  • A gene mutation in which a pair of genetic factors are different, i.e., one has the mutation.
  • It usually starts with mild symptoms and progresses gradually, with many cases of Avellino Corneal Dystrophy (ACD).
  • Most mutations fall into this category.

2. Homozygote

  • A gene mutation in which a pair of genetic factors are identical to each other, i.e., both have the mutation.
  • Severe symptoms start at an early age, leading to rapid vision loss.
  • Homozygous patients are rarely found.

Most Common Corneal Dystrophy

1. Granular Corneal Dystrophy Type 1 (GCD1)

Onset: Usually occurs in childhood, with progressive loss of vision
Cause: TGFBI R555W, the most cause.
Symptom: Small, dispersed, grayish-white deposits develop and progress in the centre of the cornea.
Characteristic: Accumulation of stereotyped deposits resembling crumbled breadcrumbs on the cornea.
Etc: More common in Americans and Europeans.

2. Avellino Corneal Dystrophy (GCD2 Or ACD)

Onset: Usually occurs between the ages of 10 and 20.
Cause: TGFBI R124H is the most common cause.
Symptom: White deposits begin to form in the centre of the cornea, increasing in number and size.
Characteristic: Some experience severe vision loss while most have progressive vision problems..
Etc: Prevalence in Korea: 1/870 (Ophthalmic Epidemiology. 2010; 17: 160-165)

3. Lattice Corneal Dystrophy Type 1 (LCD1)

Onset: Symptoms appear around the age of 10, and visual abnormalities continue to progress thereafter.
Cause: Most known cause is TGFBI R124C.
Symptom: Egg-shaped, grayish-white deposits on the cornea develop as dots, which continue to increase in number and size.
Characteristic: Bent branched linear deposits occur together to form a network.
Etc: It accounts for 14% of patients with corneal dystrophy. (American Journal of Ophthalmology 2000; 130: 516
The time of occurrence varies. (ages 3 to 42)

4. Reis-Bücklers’ Corneal Dystrophy (RBCD)

Onset: Between the ages of 10 and 20, grayish-white deposits in the cornea begin to form and progress.
Cause: TGFBI R124L is known as the most likely cause.
Symptom: Produced in the form of flowing atypical deposits in the various layers of the cornea.
Characteristic: Symptoms begin primarily in the outermost layer of the cornea.
Etc: From around the age of 2 years, painful corneal damage may occur.

5. Thiel-Behnke Corneal Dystrophy (TBCD)

Onset: Symptoms usually appear in childhood or teenage years, and then the visual acuity continues to progress..
Cause: TGFBI R555Q is known as the most likely cause.
Symptom: Honeycomb deposits form on the cornea, progressing from the center of the outermost layer to the edges as white dots appear symmetrically.

Detection And Diagnosis Of Corneal Dystrophy

Eye Examination

An ophthalmologist’s instrumental examination may confirm corneal dystrophy, but it may be difficult to accurately identify a person with minimal or no symptoms. Therefore, it is recommended to accurately identify the disease using genetic testing.

Genetic Test

Most patients with corneal dystrophy in the early stages have a clear cornea, and even if it is developed, it may be difficult to obtain accurate results because the degree of expression varies due to differences in individual living environments and long-term wearing of lenses.

When genetic testing is used, even in the case of patients who are difficult to judge with an ophthalmological equipment test, patients can be selected with accurate judgment criteria. In addition, many textbooks and literature stipulate that it is advisable to contraindicate refractive surgery such as LASIK and LASIK for those who have a mutant gene associated with corneal dystrophy.

Corneal Dystrophy Treatments


Corneal transplantation is a surgical procedure for corneal dystrophy. Vision can be temporarily secured by cutting the cornea, but it soon recurs and worsens.

Phototherapeutic Keratectomy (PTK)

Although corneal dystrophy can be temporarily treated through a therapeutic laser keratectomy, Phototherapeutic Keratectomy or PTK that partially removes the opaque corneal layer, the corneal dystrophy recurs over time, resulting in more severe opacity. That is why it is important to slow the onset and progression of the disease as much as possible.

Corneal Dystrophy Prevention

There is still no cure for corneal dystrophy. Once diagnosed with corneal dystrophy, as a preventive measure, the best way to prevent physical damage to the cornea is to correct your lifestyle and monitor it regularly.

Prevention Tips:

1. It is recommended to avoid refractive surgery such as LASIK.

2. In order to slow the progression of the disease as much as possible, avoid external stimuli such as UV rays. For outdoor activities, it is recommended to wear protective glasses with UV protection and a wide-brimmed hat.

3. Always take extra care of the eyes and avoid poking the eyes during strenuous exercise and everyday life.

4 Use artificial tears regularly.

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