Project Introduction
Research has shown that approximately 90% of corneal malnutrition patients can be attributed to TGFBI gene mutations. There are five main types of corneal malnutrition caused by mutations at different positions in this gene, including granular corneal malnutrition type 2 (GCD2, also known as Avellino corneal malnutrition/ACD), granular corneal malnutrition type 1 (GCD1), lattice corneal malnutrition type 1 (LCD1), Thiel Behnke corneal malnutrition (TBCD), and Reis Bucklers corneal malnutrition (RBCD, also known as granular corneal malnutrition type 3/GCD3), all of which are progressive genetic diseases with varying ages of onset and disease progression. They often exhibit atypical or similar symptoms, making it difficult to make a clear diagnosis of the disease.
Among them, granular corneal malnutrition type 2 (GCD2) has strong concealment, and the disease generally occurs from adolescence to early adulthood, with a small number of asymptomatic patients. Regardless of whether there are symptoms, any damage to the central cornea caused by GCD2 will induce the deposition of large areas of protein particles in the cornea, leading to accelerated disease progression and corneal opacity. Therefore, GCD2 patients are strongly prohibited from undergoing myopia surgeries such as LASIK, PRK, LASEK, and SMILE in clinical practice.

Detection range
This project detects corneal malnutrition corresponding to the following 5 TGFBI gene mutations, with the sample type being venous blood.
Patient benefits
Assist in the rapid and accurate classification of corneal malnutrition caused by TGFBI gene mutations in clinical practice, and develop targeted treatment plans.
Screening patients with contraindications for granular corneal malnutrition type 2 corneal refractive surgery (including LASIK, LASEK, PRK, SMILE and other myopia surgeries), accurately detecting early patients who are prone to missed diagnosis by conventional examination methods such as slit lamps, and avoiding the risk of severe postoperative visual impairment caused by this.
Genetic testing can diagnose patients before symptoms appear, guiding early diagnosis patients to delay disease progression and reduce disease harm by reducing outdoor exposure to ultraviolet radiation or avoiding related work.


Intended for
Clinical classification and diagnosis of suspected corneal malnutrition patients
Preoperative examination for corneal refractive surgery (including LASIK, LASEK, PRK, SMILE and other myopia surgeries)
Project advantages
Economically efficient
Focusing on the TGFBI gene mutation typing of 5 common diseases causing corneal malnutrition, with low cost and short cycle.
Accurate and reliable
The clinical manifestations of the three subtypes of granular corneal malnutrition (GCDI, GCDII, GCDIII) are extremely similar, and it is difficult to make accurate diagnosis and classification relying solely on conventional clinical examination methods. This test can achieve precise and reliable classification of the five main subtypes of corneal malnutrition, including GCDI, GCDII, and GCDIII, providing clinical reference for the next step of surgery and treatment.
Project Process

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