Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
A five generation family with an X linked ocular disorder has been investigated. The major clinical features were reduced visual acuity, nystagmus, and myopia. Although impaired night vision was not a symptom, using psychophysical and electrophysiological testing both rod and cone function were foun...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
1993
|
| _version_ | 1797087085967966208 |
|---|---|
| author | Glass, I Good, P Coleman, M Fullwood, P Giles, MG Lindsay, S Nemeth, A Davies, K Willshaw, H Fielder, A |
| author_facet | Glass, I Good, P Coleman, M Fullwood, P Giles, MG Lindsay, S Nemeth, A Davies, K Willshaw, H Fielder, A |
| author_sort | Glass, I |
| collection | OXFORD |
| description | A five generation family with an X linked ocular disorder has been investigated. The major clinical features were reduced visual acuity, nystagmus, and myopia. Although impaired night vision was not a symptom, using psychophysical and electrophysiological testing both rod and cone function were found to be abnormal in all affected males. No abnormality was detected in carrier females. Gene location studies showed X linked transmission of a gene that maps to proximal Xp11. The findings observed in this cohort are similar to those previously reported in both congenital stationary night blindness type 2 (CSNB2) and Aland Island eye disease (AIED). This study addresses whether CSNB2 and AIED are a single entity or whether the latter is a subset of the former. |
| first_indexed | 2024-03-07T02:31:05Z |
| format | Journal article |
| id | oxford-uuid:a7432909-5614-4350-93a2-8d8458156afa |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T02:31:05Z |
| publishDate | 1993 |
| record_format | dspace |
| spelling | oxford-uuid:a7432909-5614-4350-93a2-8d8458156afa2022-03-27T02:53:22ZGenetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:a7432909-5614-4350-93a2-8d8458156afaEnglishSymplectic Elements at Oxford1993Glass, IGood, PColeman, MFullwood, PGiles, MGLindsay, SNemeth, ADavies, KWillshaw, HFielder, AA five generation family with an X linked ocular disorder has been investigated. The major clinical features were reduced visual acuity, nystagmus, and myopia. Although impaired night vision was not a symptom, using psychophysical and electrophysiological testing both rod and cone function were found to be abnormal in all affected males. No abnormality was detected in carrier females. Gene location studies showed X linked transmission of a gene that maps to proximal Xp11. The findings observed in this cohort are similar to those previously reported in both congenital stationary night blindness type 2 (CSNB2) and Aland Island eye disease (AIED). This study addresses whether CSNB2 and AIED are a single entity or whether the latter is a subset of the former. |
| spellingShingle | Glass, I Good, P Coleman, M Fullwood, P Giles, MG Lindsay, S Nemeth, A Davies, K Willshaw, H Fielder, A Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. |
| title | Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. |
| title_full | Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. |
| title_fullStr | Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. |
| title_full_unstemmed | Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. |
| title_short | Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. |
| title_sort | genetic mapping of a cone and rod dysfunction aland island eye disease to the proximal short arm of the human x chromosome |
| work_keys_str_mv | AT glassi geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome AT goodp geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome AT colemanm geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome AT fullwoodp geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome AT gilesmg geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome AT lindsays geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome AT nemetha geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome AT daviesk geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome AT willshawh geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome AT fieldera geneticmappingofaconeandroddysfunctionalandislandeyediseasetotheproximalshortarmofthehumanxchromosome |