Unilateral retinitis pigmentosa and cone-rod dystrophy

Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod dystrophy and to compare the similarities and dissimil...

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Autor principal: Donald F Farrell
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Lenguaje:EN
Publicado: Dove Medical Press 2009
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Acceso en línea:https://doaj.org/article/b5255ba5a5b049058ef672c17539e799
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spelling oai:doaj.org-article:b5255ba5a5b049058ef672c17539e7992021-12-02T01:42:53ZUnilateral retinitis pigmentosa and cone-rod dystrophy1177-54671177-5483https://doaj.org/article/b5255ba5a5b049058ef672c17539e7992009-03-01T00:00:00Zhttp://www.dovepress.com/unilateral-retinitis-pigmentosa-and-cone-rod-dystrophy-a2971https://doaj.org/toc/1177-5467https://doaj.org/toc/1177-5483Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod dystrophy and to compare the similarities and dissimilarities to those found in the bilateral forms of these disorders.Methods: A total of 272 cases of retinitis pigmentosa and 167 cases of cone-rod dystrophy were studied by corneal full field electroretinograms and electrooculograms. The student t-test was used to compare categories.Results: The percentage of familial and nonfamilial cases was the same for the bilateral and unilateral forms of the disease. In our series, unilateral retinitis pigmentosa makes up approximately 5% of the total population of retinitis pigmentosa, while unilateral cone-rod dystrophy makes up only about 2% of the total. In the familial forms of unilateral retinitis pigmentosa the most common inheritance pattern was autosomal dominant and all affected relatives had bilateral disease.Conclusion: Unilateral retinitis pigmentosa and cone-rod dystrophy appear to be directly related to the more common bilateral forms of these disorders. The genetic mechanisms which account for asymmetric disorders are not currently understood. It may be a different unidentified mutation at a single loci or it is possible that nonlinked mutations in multiple loci account for this unusual disorder.Keywords: unilateral retinitis pigmentosa, unilateral cone-rod dystrophy, nonlinked mutations, correlations, age of onset Donald F FarrellDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2009, Iss default, Pp 263-270 (2009)
institution DOAJ
collection DOAJ
language EN
topic Ophthalmology
RE1-994
spellingShingle Ophthalmology
RE1-994
Donald F Farrell
Unilateral retinitis pigmentosa and cone-rod dystrophy
description Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod dystrophy and to compare the similarities and dissimilarities to those found in the bilateral forms of these disorders.Methods: A total of 272 cases of retinitis pigmentosa and 167 cases of cone-rod dystrophy were studied by corneal full field electroretinograms and electrooculograms. The student t-test was used to compare categories.Results: The percentage of familial and nonfamilial cases was the same for the bilateral and unilateral forms of the disease. In our series, unilateral retinitis pigmentosa makes up approximately 5% of the total population of retinitis pigmentosa, while unilateral cone-rod dystrophy makes up only about 2% of the total. In the familial forms of unilateral retinitis pigmentosa the most common inheritance pattern was autosomal dominant and all affected relatives had bilateral disease.Conclusion: Unilateral retinitis pigmentosa and cone-rod dystrophy appear to be directly related to the more common bilateral forms of these disorders. The genetic mechanisms which account for asymmetric disorders are not currently understood. It may be a different unidentified mutation at a single loci or it is possible that nonlinked mutations in multiple loci account for this unusual disorder.Keywords: unilateral retinitis pigmentosa, unilateral cone-rod dystrophy, nonlinked mutations, correlations, age of onset
format article
author Donald F Farrell
author_facet Donald F Farrell
author_sort Donald F Farrell
title Unilateral retinitis pigmentosa and cone-rod dystrophy
title_short Unilateral retinitis pigmentosa and cone-rod dystrophy
title_full Unilateral retinitis pigmentosa and cone-rod dystrophy
title_fullStr Unilateral retinitis pigmentosa and cone-rod dystrophy
title_full_unstemmed Unilateral retinitis pigmentosa and cone-rod dystrophy
title_sort unilateral retinitis pigmentosa and cone-rod dystrophy
publisher Dove Medical Press
publishDate 2009
url https://doaj.org/article/b5255ba5a5b049058ef672c17539e799
work_keys_str_mv AT donaldffarrell unilateralretinitispigmentosaandconeroddystrophy
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