Choroideremia : Clinical and Genetic Aspects

Sorsby, Arnold; Franceschetti, A; Joseph, Ruby; Davey, J. B.

doi:10.1136/bjo.36.10.547

Cited by 66 publications

(25 citation statements)

References 15 publications

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“…303100), a rare, X chromosome-linked retinal dystrophy, produces visual field constriction and night blindness in adolescence and results in blindness by the fourth to fifth decade of life (1,2). The molecular and cellular pathogenesis is unknown (3,4).…”

mentioning

confidence: 99%

Isolation of a candidate gene for choroideremia.

Merry

Jänne

Landers

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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mentioning

confidence: 99%

Isolation of a candidate gene for choroideremia.

Merry

Jänne

Landers

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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“…303100, McKusick 1990) is an X-linked recessive chorioretinal dystrophy characterized by night blindness and progressive constriction of the visual fields leading to blindness in young adulthood (McCulloch and McCulloch 1948;Sorsby et al 1952). Heterozygous females are generally symptomless, but they can be detected by ophthalmoscopy because of characteristic changes in the fundus of the eye.…”

Section: Introductionmentioning

confidence: 97%

Choroideremia: linkage analysis with physically mapped close DNA-markers

et al. 1991

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We report linkage studies in 18 choroideremia (TCD) families using four closely linked polymorphic markers. Probe pZ11, which is known to be deleted in several unrelated patients with TCD, showed no recombinations (zeta max 15.63 at theta = 0.00). In contrast, one recombination was observed with DXS367, which is also physically very close to TCD. Loci DXS95 and DXYS69 each showed more than one recombination with TCD. Moreover, these analyses revealed a double crossover between TCD and DXYS1, changing the previously reported very close linkage to a recombination fraction of 0.04 with a lod score of 9.93. Multipoint linkage analysis placed TCD proximal to DXS95-DXYS69 and very close to DXS367-pZ11 with almost identical multipoint lod score maxima either proximal to DXS367 (zeta max = 23.43) or proximal to pZ11 (zeta max = 23.36). These results provide a refined linkage map around TCD and will also be useful in DNA diagnostics of the disease.

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“…Choroideremia is a rare X-linked recessive degenerative disease of the eye characterized by diffuse progressive degeneration of the retinal pigment epithelium and choriocapillaris (McCulloch and McCulloch 1948;Sorsby et al 1952). In the first decade of life, affected males show night blindness and a progressive loss of peripheral vision.…”

Section: Introductionmentioning

confidence: 99%

Choroideremia associated with an X-autosomal translocation

et al. 1990

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A patient with mild choroideremia has been shown to carry a balanced translocation between chromosome X and 13-46,X,t(X;13)(q21.2;p12). Loci (DXY21, DX232, DX233) shown to map to this region on the X chromosome and in some cases to be deleted in other patients with choroideremia are intact in the DNA from this patient. To our knowledge this is the first report of a translocation associated with choroideremia. One of the translocation chromosomes, derivative 13, free of the derivative X and normal X, has been isolated in a somatic cell hybrid. Because of the clinical association of the eye findings with chromosome interchange, we suggest that the breakpoint on the X is at or near the choroideremia locus. Further analysis of this translocation may be useful in cloning the choroideremia gene.

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Choroideremia : Clinical and Genetic Aspects

Cited by 66 publications

References 15 publications

Isolation of a candidate gene for choroideremia.

Isolation of a candidate gene for choroideremia.

Choroideremia: linkage analysis with physically mapped close DNA-markers

Choroideremia associated with an X-autosomal translocation

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