Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
Nervous system diseases
Eye disease
H00789 Keratoconus
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball anterior segment
Disorders of the cornea
9A78 Certain specified disorders of cornea
H00789 Keratoconus
Network
nt06515 Regulation of kinetochore-microtubule interactions
Keratoconus can also be found in sydromic conditions such as Down syndrome, mitral valve prolapse [DS:H00661], Marfan syndrome [DS:H00653], and Ehlers-Danlos syndrome [DS:H00802].
Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM
Title
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin, and hypermobility of the small joints are additional features of BCS. Mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
Congenital malformations
Congenital malformations of skin
H01902 Brittle cornea syndrome
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD28 Syndromes with connective tissue involvement as a major feature
H01902 Brittle cornea syndrome
Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Burer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C
Title
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM
Title
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
