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2001-23: Congenital blindness and early forms of retinitis pigmentosa: identification of molecular causes and genoype-phenotype correlation

Medical retina
Molecular biology
Investigator Initiated Research
Inclusion open since 24-10-2001

Amaurosis congenita of Leber ( LCA , congenital blindness ) can be regarded as a congenital form of Retinitis Pigmentosa ( RP ) and occurs whether or not with other physical conditions. These syndromes are genetically determined and cause night blindness, loss of peripheral vision and deterioration of central vision leading to (severe ) visual impairment. Currently, there are eight different hereditary factors ( genes ) identified. Each of these genes has at 6% of the LCA patients mutations. It is also known that these genes can be involved in juvenile RP. The aim of this study is to detect abnormalities in Dutch patients in the known genes and to search for new genes. If it is known which mutations cause the mentioned hereditary eye diseases, is is possible to predict who has a great chance for visual impairment.

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