Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by
clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and …

Purpose.: To determine the genetic defect and to describe the clinical characteristics in a
cohort of mainly nonconsanguineous cone–rod dystrophy (CRD) patients. Methods.: One …

Inherited retinal dystrophies comprise a broad group of genetic eye diseases without
effective treatment. Among them, Stargardt disease is the second most prevalent pathology …

The purpose of this study was to develop a flexible, cost-efficient, next-generation
sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction …

The aim of this study was to assess the mutational spectrum of the ABCA4 gene in a cohort
of patients with Stargardt disease from Mexico, a previously uncharacterized population …

Background Inherited retinal dystrophies are hereditary diseases which have in common the
progressive degeneration of photoreceptors. They are a group of diseases with clinical …

Purpose: Retinitis pigmentosa (RP) is the most common inherited retinal disease with high
genetic heterogeneity and variable phenotypes. Characteristic symptoms include night …

The aim of this review is to reveal Turkey's current status of medical practice in inherited eye
diseases and the necessary steps to improve healthcare services and research activities in …

ABCA4-associated mutation screening is extensively performed in European, African,
American and several other populations for various retinopathies. However, it has not been …

Purpose: Stargardt disease (STGD) is the most prevalent juvenile macular dystrophy, and it
has been associated with mutations in the ABCRgene, encoding a photoreceptor-specific …