In the front of the eye, the transparent cornea plays a key role as an optical organ, and when we talk about the topic of corneal dystrophy, it may arouse the curiosity and concern of many people. Corneal dystrophy is a rare genetic disease characterized by abnormal deposition of material in the cornea of both eyes, which affects vision.
Symptoms of corneal dystrophySymptoms of corneal dystrophy are not limited to changes in appearance, such as gray-white streaks or clouding, but can also lead to a progressive decrease in vision and even pain in some cases.
In the early stages, corneal dystrophy may not significantly affect vision, but as the disease progresses, visual impairment becomes increasingly evident. These disorders usually manifest in the first or second decade of life but sometimes appear at other ages. Grayish-white lines or circles may appear on the patient's cornea, and some patients may even have crystalline corneas.
Many types of corneal dystrophy are caused by mutations in specific genes. For example, mutations in the TGFBI gene are associated with multiple corneal dystrophies. These genetic diseases are inherited in a simple manner, most of them are autosomal dominant or recessive, and very rarely are they X-linked recessive.
PathophysiologyThe different types of corneal dystrophy share one characteristic: most develop gradually over time and usually do not cause disease in other parts of the body.
In pathophysiology, corneal opacity may be caused by abnormal deposition of lipids, cholesterol crystals and other substances, which impairs the transparency of the cornea. Different types of corneal dystrophy have their own unique pathological changes, and as the disease progresses, the impact on vision also varies.
The diagnosis of corneal dystrophies is usually based on clinical examination, although some cases may require further molecular genetic analysis to confirm. If the patient has corneal opacity or blurred vision and there is a family history, these diseases need to be given priority.
Classification of corneal dystrophiesDepending on the affected area, corneal dystrophy can be divided into epithelial, stromal and endothelial problems. Common types include epithelial basement membrane dystrophy, granular and reticular corneal dystrophy, etc. The presentation and course of each type can vary greatly.
For early asymptomatic cases, immediate intervention may not be required. However, if vision problems occur, high-osmotic eye drops or placebo may be considered. Ultimately, some patients may need a corneal transplant to restore vision. Through surgical treatment, many patients have achieved good visual recovery results in the later stages, but they may face the risk of disease recurrence after surgery.
Looking into the future, the latest surgical techniques continue to improve the success rate, giving new hope to patients suffering from corneal dystrophy.
Faced with the physiological and genetic challenges of corneal dystrophy, can future research lead to more effective treatments that reduce pain and vision loss for patients?