ETIOPATHOGENETIC FEATURE OF STARGHARDT DISEASE. THE OPPORTUNITIES OF CLINICAL AND MOLECULAR GENETIC DIAGNOSIS (LITERATURE REVIEW)

Abstract

Starghardt macular dystrophy is one of the most common hereditary macular dystrophies. ABCR gene has a high level of polymorphism, multiple pathological mutations and difficult feature of inheritance. All these factors determine the special methods of clinical and molecular genetic diagnosis.

Keywords

• starghardt disease
• abcr gene
• autofluorescence
• optical coherence tomography
• molecular genetic diagnosis