Spherophakia-Brachymorphia

Marchesani syndrome is a rare hereditary disease of the eyeball. A pathology of two complications manifests itself - spherical cornea (spherofac) and congenital myopia. It has been proven that the problem occurs as a result of a mutation in the BBS gene, which controls the functioning of proteins in the production of tissue cells. All people are carriers of a defective copy of this gene, but not everyone has it affecting specific areas of the visual organs.