Biomaterial Database

Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye. 2017

Joanna Swierkowska, and Marzena Gajecka

a Institute of Human Genetics, Polish Academy of Sciences , Poznan , Poland.

The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia. A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied. The differences in CCT measurements among those affected with diverse disorders and healthy individuals were evaluated. Then we considered the influence of genetic factors on CCT reduction. Disorders were compared based on phenotypes and sequence variants found in patients. Specific sequence variants in COL8A2, PRDM5 and ZNF469, COL5A1 and ZNF469, and COL5A1 and COL5A2 could probably contribute to a CCT reduction in POAG, BCS, KTCN, and EDS, respectively. Similar sequence variants and phenotypes were identified and assessed in more than one disease.

UI	MeSH Term	Description	Entries
D007593	Joint Instability	Lack of stability of a joint or joint prosthesis.	Hypermobility, Joint,Instability, Joint,Laxity, Joint,Hypermobilities, Joint,Instabilities, Joint,Joint Hypermobilities,Joint Hypermobility,Joint Instabilities,Joint Laxities,Joint Laxity,Laxities, Joint
D007640	Keratoconus	A noninflammatory, usually bilateral protrusion and thinning of the CORNEA, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. Two closely related noninflammatory corneal ectasias are pellucid marginal degeneration and keratoglobus.	Keratoglobus,Pellucid Marginal Corneal Degeneration,Pellucid Marginal Degeneration,Degeneration, Pellucid Marginal,Marginal Degeneration, Pellucid,Pellucid Marginal Degenerations
D009216	Myopia	A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.	Nearsightedness,Myopias,Nearsightednesses
D009929	Organ Size	The measurement of an organ in volume, mass, or heaviness.	Organ Volume,Organ Weight,Size, Organ,Weight, Organ
D010013	Osteogenesis Imperfecta	COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.	Fragilitas Ossium,Lobstein Disease,Brittle Bone Disease,Lobstein's Disease,Osteogenesis Imperfecta Tarda,Osteogenesis Imperfecta with Blue Sclerae,Osteogenesis Imperfecta, Type 1,Osteogenesis Imperfecta, Type I,Disease, Lobstein,Disease, Lobstein's,Lobsteins Disease,Ossiums, Fragilitas,Osteogenesis Imperfecta Tardas
D003315	Cornea	The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)	Corneas
D004535	Ehlers-Danlos Syndrome	A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.	Cutis Elastica,Ehlers Danlos Disease,Ehlers-Danlos Disease,Danlos Disease, Ehlers,Disease, Ehlers Danlos,Disease, Ehlers-Danlos,Ehlers Danlos Syndrome,Syndrome, Ehlers-Danlos
D005124	Eye Abnormalities	Congenital absence of or defects in structures of the eye; may also be hereditary.	Abnormalities, Eye,Abnormality, Eye,Eye Abnormality
D005128	Eye Diseases	Diseases affecting the eye.	Eye Disorders,Eye Disease,Eye Disorder
D005136	Eye Proteins	PROTEINS derived from TISSUES of the EYE.	Proteins, Eye