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Secrets Hidden in the Eyes: What is Corneal Dystrophy and How Does It Affect Your Vision?
Coreal dystrophies are a group of rare genetic disorders characterized by abnormal accumulation of material in the clear front part of the eye (the cornea), usually bilaterally. These diseases gradually affect vision, but early symptoms may not be obvious, so professional evaluation and treatment are needed to restore optimal vision.
Coreal dystrophy is often characterized by gray-white lines, circles or corneal opacity, and sometimes even a crystalline appearance.
Symptoms and effects
Coreal dystrophy usually appears in the first or second decade of life, but sometimes it can occur later. Common characteristics of these disorders include being hereditary, affecting both left and right eyes equally, and not being affected by external factors such as injury or diet. While some corneal dystrophies can cause severe vision impairment, others can be diagnosed during a professional eye exam without any vision problems.
In addition, some corneal dystrophies may cause recurring pain but not permanent vision loss. This leaves patients with varying visual effects, necessitating regular ophthalmological evaluation.
Genetics of corneal dystrophy
Different types of corneal dystrophy are caused by mutations in multiple genes, including CHST6, KRT3, KRT12, etc. Mutations in these genes, including the TGFBI gene, can cause various types of corneal dystrophies, such as granular corneal dystrophy and grating corneal dystrophy.
Most corneal dystrophies present with a Mendelian inheritance pattern, which may be simple autosomal dominant, autosomal recessive, or the rare X-linked recessive inheritance.
Pathophysiology
Coreal dystrophies may be caused by the buildup of foreign material, such as lipid or cholesterol crystals, within the cornea. This buildup causes clouding and loss of transparency of the cornea, which affects vision.
Diagnostic methods
Diagnosis is usually based on clinical assessment and may be further studied using surgically removed corneal tissue. In some cases, molecular genetic analysis can help. Corneal dystrophy should be highly suspected when there is a loss of corneal transparency or when the cornea appears opacified, especially if there is a family history of the disease or consanguinity from the front.
Different types of corneal dystrophy
For example, Meesmann corneal dystrophy, Reis-Bücklers corneal dystrophy, and Fuchs corneal dystrophy, etc. Each of these diseases has its own special clinical characteristics and age of onset.
For example, Fuchs' corneal dystrophy usually presents in the fifth or sixth decade of life and is characterized by thickening of Descemet's membrane and generalized corneal edema.
Treatment methods
Early stages of corneal dystrophy may not require intervention, but when vision is affected, treatment may include the use of highly penetrating eye drops and ointments to reduce corneal edema. In some cases, patients may need to wear contact lenses, but ultimately surgery, such as a corneal transplant, is usually required.
Penetrating corneal transplantation is a common surgical procedure that generally results in good long-term results, but there may still be a risk of disease recurrence.
Thought-provoking questions
With diseases hidden in the eyes, should we pay more attention to eye health examination and evaluation?
