Genetics of congenital cataract and its diagnosis and therapeutics

Publication date: Available online 29 July 2018Source: Egyptian Journal of Basic and Applied SciencesAuthor(s): Luqman Khan, Nargis Shaheen, Qaisar Hanif, Shah Fahad, Muhammad UsmanAbstractCongenital cataract is defined as an opacification of the eye lens appearing at birth or shortly thereafter. Congenital cataract is one of the highest significant causes of blindness or optical impairment in the childhood. Cataract, the cloudiness of the lens is the most frequent reason of blindness worldwide, demonstrating nearly half of all causes of loss of sight worldwide. A significant amount of isolated congenital cataract has monogenic roots. It is genetically heterogeneous, and all the modes of Mendelian inheritance have been described. Numerous genes linked with inherited and paediatric cataracts have been recognised. Inherited congenital cataract has been linked with mutations in particular genes, comprising of crystallins, membrane transport, channel proteins and gap junction proteins, the development, transcriptional factors and the cytoskeleton. Discovering the mutations and the genes responsible for cataractogenesis are important in achieving a response to the molecular deficiencies and pathophysiologic features of inherited congenital cataracts.
Source: Egyptian Journal of Basic and Applied Sciences - Category: Science Source Type: research