Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …

As structural genomics (SG) projects continue to deposit representative 3D structures of
proteins, homology modeling methods will play an increasing role in structure-based drug …

Background: Gene therapy cannot be yet considered a far perspective, but a tangible
therapeutic option in the field of retinal diseases. Although still confined in experimental …

A major goal in vision research over the past few decades has been to understand the
molecular details of retinoid processing within the retinoid (visual) cycle. This includes the …

In the last decades, homology modeling has become a popular tool to access theoretical
three-dimensional (3D) structures of molecular targets. So far several 3D models of proteins …

Purpose: To describe the retinal phenotype of pediatric patients with mutations in the retinol
dehydrogenase 12 (RDH12) gene. Methods: Twenty-one patients from 14 families (ages 2 …

Purpose.: Although the retinoid cycle is essential for vision, all-trans-retinal and the side
products of this cycle are toxic. Delayed clearance of all-trans-retinal causes accumulation of …

Purpose To identify patients with autosomal recessive retinal dystrophy caused by mutations
in the gene, retinal dehydrogenase 12 (RDH12), and to report the associated phenotype …

Purpose: The purpose of this study was to elucidate the genetic basis of 2 distinct
phenotypes associated with biallelic variants in RDH12. Methods: Patients with biallelic …

Background Defects in retinol dehydrogenase 12 (RDH12) account for 3.4%–10.5% of
Leber congenital amaurosis and early-onset severe retinal dystrophy (EOSRD) and are a …