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Molecular and functional genetics of inherited eye disorders in India
Author(s) -
KANNABIRAN C
Publication year - 2008
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2008.6153.x
Subject(s) - mendelian inheritance , genetics , disease , molecular genetics , retinoblastoma , human genetics , medical genetics , macular degeneration , medicine , genetic counseling , candidate gene , identification (biology) , biology , bioinformatics , gene , ophthalmology , pathology , botany
Purpose To understand the genetics of ocular diseases in India by identification of the underlying genes, characterizing the functional effects of pathogenic or disease‐associated variants in suitable systems and to develop applications of genetics in patient screening and counseling. Methods Genetic analysis involves the screening of candidate genes, linkage and association studies on patients and families recruited for specific eye diseases including several Mendelian and complex diseases. Phenotypic correlations are drawn using clinical, histological and other data as applicable from medical records of patients. Results Over the last 10 yrs, we have carried out studies on retinal dystrophies, retinoblastoma, congenital cataract, corneal dystrophies, anterior segemnt dysgeneses, congenital glaucoma, POAG, age‐related macular degeneration and myopia. These studies have led to the identification of new genes and genetic associations, as well as delineation of mutational spectra for various Mendelian disorders. Functional and/or structural effects of disease‐associated mutations are another area of activity and questions in this realm have been investigated for some proteins such as crystallins and optineurin. Conclusion The challenge in the near future is to develop effective and relevant ways of translating genetic and molecular science towards the benefit of patients.