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The
Genetics of Keratoconus |
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Keratoconus (KTCN) is non-inflammatory
thinning and anterior protrusion of the
cornea that results in steepening and
distortion of the cornea, altered refractive
error, and decreased vision. Keratoconus is
a complex condition of multifactorial
etiology. Both genetic and environmental
factors are associated with KTCN. Evidence
of genetic etiology includes familial
inheritance, discordance between dizygotic
twins, and association with other known
genetic disorders. Several loci responsible
for a familial form of KTCN have been
mapped; however, no mutations in any genes
have been identified for any of these loci.
This article focuses on the genetic aspects.
In addition, bioinformatics methods applied
in KTCN gene identification process are
discussed.
Dorota M Nowak, Marzena Gajecka
Middle East Afr J Ophthalmol 2011; Volume
18, Issue 1, Page 2-6
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The
Primary congenital glaucoma and the involvement of CYP1B1 |
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Primary congenital glaucoma (PCG) is an autosomal recessive disorder in children due to the abnormal development of the trabecular meshwork and the anterior chamber angle. With an onset at birth to early infancy, PCG is highly prevalent in inbred populations and consanguinity is strongly associated with the disease. Gene mapping of PCG-affected families has identified three chromosomal loci, GLC3A, GLC3B and GLC3C, of which, the CYP1B1 gene on GLC3A harbors mutations in PCG. The mutation spectra of CYP1B1 vary widely across different populations but are well structured based on geographic and haplotype backgrounds. Structural and functional studies on CYP1B1 have suggested its potential role in the development and onset of glaucomatous symptoms. A new locus (GLC3D) harboring the LTBP2 gene has been characterized in developmental glaucoma but its role in classical cases of PCG is yet to be understood. In this review, we provide insight into PCG pathogenesis and the potential role of CYP1B1 in the disease phenotype.
Kaur K, Mandal AK, Chakrabarti S.
Middle East Afr J Ophthalmol 2011; Volume 18, Issue 1, Page 7-16
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