Corneal dystrophy refers to a group of inherited eye disorders that affect the cornea, the clear front part of the eye. These conditions are caused by mutations in specific genes, with the TGFBI gene being the most commonly affected. These mutations lead to the progressive build-up of abnormal protein deposits in the cornea, causing vision impairment.

• Phototherapeutic Keratectomy (PTK): PTK is a laser-based procedure that can remove the superficial layers of the cornea where protein deposits have accumulated. However, this treatment is temporary, and the protein deposits tend to recur, often within a few years.
• Corneal Transplantation: Corneal transplantation involves replacing the affected cornea with a healthy donor cornea. However, even after transplantation, corneal dystrophy can recur because the underlying genetic predisposition remains. Complete removal of the patient’s original cornea is often impossible, and the remaining tissue can still experience protein accumulation.

Unfortunately, there is currently no cure for corneal dystrophy. Once diagnosed, the best approach is preventive measures to avoid physical damage to the cornea and regular monitoring.

Corneal dystrophies can be triggered by multiple factors, including:

• Genetic mutations (especially in the TGFBI gene)
• Corneal trauma (physical injuries, chemical burns)
• Other eye surgeries (such as cataract surgery)
• Environmental factors (such as prolonged UV exposure)

Early Detection: It can identify individuals with the genetic mutations even before symptoms appear, enabling early intervention. Accurate Diagnosis: Knowing the specific genetic mutation can help predict the disease course and guide decisions regarding vision correction procedures, such as LASIK, which are contraindicated in certain types of corneal dystrophy.

According to previous clinical trials, the Refractive Surgery Genetic Test has demonstrated high sensitivity and specificity in detecting relevant gene mutations. This high accuracy enables detection of corneal dystrophy in early stages or even before symptoms appear, preventing acceleration of the condition after refractive surgery.

While ophthalmologists typically provide vision and refractive tests, slit-lamp examinations, and fundus examinations for patients before vision correction surgery, corneal dystrophy often has no symptoms in its early stages. During pre-surgical examinations, standard eye examination equipment may completely miss this condition. However, after surgery, patients can experience corneal clouding, sudden eye pain, and excessive tearing. It’s difficult to accurately identify the risk of corneal dystrophy through traditional examinations alone. Therefore, genetic testing for accurate diagnosis of corneal diseases is very important.

Scientific research has confirmed 70 TGFBI gene mutations associated with corneal dystrophies. Among these, five of the most common mutations include:

• R124L
• R555Q
• R124H
• R555W
• R124C

Avellino Reflective Surgery Genetic Test identifies these five high-risk mutations, covering about 76% of TGFBI-related corneal dystrophy cases, providing comprehensive pre-surgical screening for patients.

Source: Chao-Shern C, Me R, DeDionisio LA, Ke BL, Nesbit MA, Marshall J, Moore CBT. Post-LASIK exacerbation of granular corneal dystrophy type 2 in members of a chinese family. Eye (Lond). 2018 Jan;32(1):39-43