Self, James and Lotery, Andrew (2006) The molecular genetics of congenital idiopathic nystagmus. Seminars in Ophthalmology, 21 (2), 87-90. (doi:10.1080/08820530600614017). (PMID:16702075)
Abstract
Congenital Idiopathic Nystagmus (CIN) is genetically heterogeneous. Autosomal dominant, autosomal recessive and X-linked patterns of inheritance have been reported. Linkage analysis has suggested the existence of at least three distinct loci for both autosomal dominant and x-linked forms, although as yet no disease genes have been identified. The pathophysiological mechanisms underlying nystagmus are poorly understood and it is likely that insights may arise from finding and characterizing disease genes. If linkage experiments are used to find "nystagmus genes," their power will depend heavily on accurate phenotyping to avoid misdiagnosis due to masquerading conditions and phenotypic variations within pedigrees.
This record has no associated files available for download.
More information
Identifiers
Catalogue record
Export record
Altmetrics
Contributors
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.