Corneal Dystrophy Familial Speckled

Familial corneal dystrophy (synonyms: Francois corneal dystrophy (in Russia), Belgian corneal dystrophy; English Francois corneal dystrophy) is the most common chronic eye dystrophy (according to WHO classification).

This is a hereditary chronic disease of the cornea, which is based on a violation of glycosaminoglycan metabolism and corneal repair. The disease is caused by a mutation in the genes that encode mucopolysaccharide glycolipids - glycoproteins located in the layers of the cornea and forming collagen fibers. Defective mucopolysacroid glycosylation leads to neovascularization, degeneration, formation of uvei and peripheral posterior synechiae. This mutation has been well studied, making it possible to predict incidence in families with known mutations in the gene in this region. Understanding the protein sequence may help develop inhibitors of the glycosaminoglyase pathway and inhibitory amino acids as potential treatments for the disease.

Patients with corneal dystrosia familial krapiata are characterized by gradual clouding and thinning of the corneas, which leads to decreased clarity of vision and inability to recognize objects at close range, and in the case of corneal ulceration, decreased clarity