Differential Clinical Signs of Bietti Corneoretinal Dystrophy (Clinical Case)

Hereditary retinal dystrophies are clinically and genetically heterogeneous group of conditions, many which have similar symptoms functional findings, making correct diagnosis difficult. Bietti corneoretinal dystrophy is a rare form hereditary with an autosomal recessive mode inheritance. With this dystrophy, yellow-white crystals visualized on the retina progressive atrophy pigment epithelium, accumulation, sclerosis choriocapillaries observed. A mutation in CYP4V2 gene leads to development disease. Currently, 50 different mutations been described, most missense mutations. The article presents clinical case confirmed description signs that should be considered when taken into account differential other dystrophies. Molecular genetic analysis necessary doubtful cases, as well for counseling relatives at risk prenatal testing high-risk pregnancies.