Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions
characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft …

Background Real-time PCR is increasingly being adopted for RNA quantification and
genetic analysis. At present the most popular real-time PCR assay is based on the …

Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual
pathway and only co-occur in connection with albinism; to date, they have only been …

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal
vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal …

Mutations in the RDS gene, which encodes the photoreceptor glycoprotein peripherin, have
been sought in families with autosomal dominant retinal dystrophies. A cysteine deletion at …

Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are
ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by …

Keratoconus (KC) is a progressive, early onset, and often bilateral eye condition, in which
the cornea gradually weakens and bulges out, and in advanced cases may eventually …

Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by
progressive degeneration of the peripheral retina leading to night blindness and loss of …

Despite rapid advances in the identification of genes involved in disease, the predictive
power of the genotype remains limited, in part owing to poorly understood effects of second …

Primary congenital glaucoma (PCG) is an autosomal-recessive condition characterized by
high intraocular pressure (IOP), usually within the first year of life, which potentially could …