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The molecular genetics of congenital idiopathic nystagmus

The molecular genetics of congenital idiopathic nystagmus
The molecular genetics of congenital idiopathic nystagmus
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.
x-linked nystagmus
0882-0538
87-90
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Self, James
0f6efc58-ae24-4667-b8d6-6fafa849e389
Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514

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)

Record type: Article

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.

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More information

Published date: January 2006
Keywords: x-linked nystagmus
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 357139
URI: http://eprints.soton.ac.uk/id/eprint/357139
ISSN: 0882-0538
PURE UUID: cc798ff5-61a3-400a-bfe7-b0f5741a7cfa
ORCID for James Self: ORCID iD orcid.org/0000-0002-1030-9963
ORCID for Andrew Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 20 Sep 2013 10:26
Last modified: 18 Feb 2021 17:06

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Author: James Self ORCID iD
Author: Andrew Lotery ORCID iD

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