Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …

Pseudokinases are members of the protein kinase superfamily but signal primarily through
noncatalytic mechanisms. Many pseudokinases contribute to the pathologies of human …

Acquired color vision deficiency occurs as the result of ocular, neurologic, or systemic
disease. A wide array of conditions may affect color vision, ranging from diseases of the …

The cone and cone–rod dystrophies form part of a heterogeneous group of retinal disorders
that are an important cause of visual impairment in children and adults. There have been …

Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …

Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in
childhood and is characterised by a severe retinal dystrophy before the age of one year. Six …

Mutations in GUCY2D, the gene encoding retinal guanylate cyclase-1 (retGC1), are the
leading cause of autosomal dominant cone–rod dystrophy (CORD6). Significant progress …

Myopia is the most common cause of visual impairment worldwide. Genetic and
environmental factors contribute to the development of myopia. Studies on the molecular …

Albinism describes a heterogeneous group of genetically determined disorders
characterized by disrupted synthesis of melanin and a range of developmental ocular …

Purpose: To investigate mutations in 234 genes associated with retinal dystrophies in a
cohort of 298 probands with early-onset high myopia using whole exome sequencing …