Genetic and genomic studies, including genome-wide association studies (GWAS) have
accelerated the discovery of genes contributing to glaucoma, the leading cause of …

Refractive errors (myopia, hyperopia, and astigmatism) are complex heterogeneous
disorders of the human eye and are ideal for genetic investigation. Moderate to severe …

Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious
variation within components of the transforming growth factor-β pathway, particularly the …

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We
conducted a genome-wide association study including 1,854 PACG cases and 9,608 …

Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle
glaucoma (POAG), one of the leading causes of blindness worldwide. Both IOP and POAG …

Glaucoma can be inherited as a mendelian autosomal-dominant or autosomal-recessive
trait, or as a complex multifactorial trait. Genetic approaches have helped define the …

Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of
individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal …

Glaucoma, a leading cause of blindness worldwide, is characterized by progressive optic
nerve damage, usually associated with intraocular pressure. Although the clinical …

Heterozygous mutations in the homeobox gene, PITX2, result in ocular anterior segment
defects and a high incidence of early-onset glaucoma. Pitx2 is expressed in both the neural …

Glaucoma is a family of diseases whose pathology is defined by the progressive loss of
retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with …