publication . Article . 2013

Etiopathogenetic feature of Starghardt disease. The opportunities of clinical and molecular genetic diagnosis (Literature review)

M. F. Shurygina; S. A. Borzenok; O. V. Khlebnikova;
Open Access Russian
  • Published: 01 Mar 2013 Journal: Офтальмохирургия (issn: 0235-4160, eissn: 0235-4160, Copyright policy)
  • Publisher: Publishing house "Ophthalmology"
Abstract
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.
Subjects
Medical Subject Headings: eye diseasesgenetic structuressense organs
free text keywords: Starghardt disease, ABCR gene, autofluorescence, optical coherence tomography, molecular genetic diagnosis, Ophthalmology, RE1-994
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publication . Article . 2013

Etiopathogenetic feature of Starghardt disease. The opportunities of clinical and molecular genetic diagnosis (Literature review)

M. F. Shurygina; S. A. Borzenok; O. V. Khlebnikova;