We provide a comprehensive classification of the proteoglycan gene families and respective
protein cores. This updated nomenclature is based on three criteria: Cellular and subcellular …

X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …

Most irreversible blindness results from retinal disease. To advance our understanding of
the etiology of blinding diseases, we used single-cell RNA-sequencing (scRNA-seq) to …

Purpose Despite extensive research, mechanisms regulating postnatal eye growth and
those responsible for ametropias are poorly understood. With the marked recent increases …

Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

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 …

The small leucine-rich proteoglycan (SLRP) family has significantly expanded in the past
decade to now encompass five discrete classes, grouped by common structural and …

Transient receptor potential (TRP) channels are a widely expressed family of 28
evolutionarily conserved cationic ion channels that operate as primary detectors of chemical …

The ON pathway of the visual system, which detects increases in light intensity, is
established at the first retinal synapse between photoreceptors and ON-bipolar cells …