" Early-onset glaucoma" refers to genetically heterogeneous conditions for which glaucoma
manifests at age 5–40 years and for which only a small subset is molecularly characterized …

We identified mutations in the VSX1 homeobox gene for two distinct inherited corneal
dystrophies; posterior polymorphous dystrophy (PPD) and keratoconus. One of the mutation …

Despite the fact that cataracts constitute the leading cause of blindness worldwide, the
mechanisms of lens opacification remain unclear. We recently mapped the aculeiform …

Bardet‐Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity,
polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes …

purpose. To identify the genetic defect for the Coppock-like cataract (CCL) affecting a Swiss
family, which defect was unlinked to the chromosome 2q33-35 CCL locus. methods. A large …

Mutations in the forkhead-like 7 (FKHL7) gene have been recently shown to cause juvenile
glaucoma and anterior segment anomalies. We report on a three-generation family with …

Background Bardet–Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified.
BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome …

Congenital glaucoma refers to a genetically heterogeneous group of distinctive clinical
diseases characterised by increased intraocular pressure most often associated with …

Genetic analysis of a large Indian family with an autosomal dominant cataract phenotype
allowed us to identify a novel cataract gene, CRYBA4. After a genomewide screen, linkage …

Purpose: Peters anomaly is a developmental anomaly of the eye frequently associated with
glaucoma. The aim of this study was to further define the molecular basis of this condition …