Corneal dystrophies are a group of rare, inherited disorders characterized by bilateral deposits of abnormal material in the transparent front part of the eye, the cornea. Although vision may not be noticeably affected in the early stages, this disease still requires proper evaluation and treatment to restore optimal visual function.
Typically, corneal dystrophies appear in the first or twentieth decade, sometimes later. Symptoms may appear as grayish-white lines, circles, or a cloudy appearance on the cornea, sometimes even taking on the appearance of crystals. There are currently over twenty recognized corneal dystrophies, and the areas affected can vary greatly.
“These conditions are usually inherited and affect both eyes equally.”
Different types of corneal dystrophy may be caused by mutations in multiple genes, including CHST6, KRT3, KRT12, etc. Among them, mutations in the TGFBI gene can lead to several types of corneal dystrophy, such as granular corneal dystrophy and lattice corneal dystrophy.
"Some corneal dystrophies may be inherited in a simple autosomal dominant, autosomal recessive, or rarely X-linked recessive pattern."
Corneal dystrophy may be caused by the accumulation of excess material in the cornea, including lipid and cholesterol crystals.
Diagnosis usually relies on clinical evaluation and may be facilitated by examination of surgically removed corneal tissue and in some cases molecular genetic analysis. Corneal dystrophy should be suspected when corneal transparency is affected or corneal opacities are present, especially in the presence of a positive family history or consanguineous births.
Different types of corneal dystrophy"Clinically, symptoms vary depending on the type of disease and must be confirmed through detailed examinations."
Corneal dystrophy can be divided into many types. Depending on the different layers of the cornea affected, it can be mainly divided into epidermal and sub-epidermal, basal, stromal and endothelial corneal dystrophy.
Examples of epidermal dystrophies include Messmann's corneal dystrophy and Reese's epithelial corneal dystrophy. Examples of stromal dystrophies include Meckel's dystrophy and lattice dystrophy, while common examples of endothelial dystrophies include Fuchs' dystrophy and posterior polymorphic corneal dystrophy.
In the early stages, people may have no symptoms and may not need intervention. Initial treatment may be with hyperosmotic eye drops and ointments to reduce corneal edema and improve symptoms. In cases where vision is affected, contact lenses may be necessary and eventually surgery, such as a corneal transplant, is often required.
"Penetrating keratoplasty generally results in good long-term results."
In summary, although the symptoms of corneal dystrophy may not be obvious in the early stages, as the disease progresses, more attention should be paid to changes in vision and related symptoms. Early examination and evaluation are the only way to effectively fight this disease. Have you noticed any changes in your vision in your daily life and considered further examination?