North Carolina Macular Dystrophy and Central Areolar Pigment Epithelial Dystrophy

Small, Kent W.

doi:10.1001/archopht.1992.01080160093040

Cited by 46 publications

(22 citation statements)

References 7 publications

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“…Other previously characterized dystrophies, including central areolar pigment epithelial dystrophy, are now thought to be part of North Carolina macular dystrophy. 7 Through linkage analysis, North Carolina macular dystrophy has been localized to chromosome 6q14-q16.2; however, no putative gene has yet been identified. 6 Our patient did not undergo genetic testing, as the father stated he had already been analyzed previously and did not see the need for further testing.…”

Section: Discussionmentioning

confidence: 99%

Subfoveal choroidal neovascularization in a 3-year-old child with North Carolina macular dystrophy

Rhee

Reichel

Rogers

et al. 2007

Journal of American Association for Pediatric Ophthalmology and

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Section: Discussionmentioning

confidence: 99%

Subfoveal choroidal neovascularization in a 3-year-old child with North Carolina macular dystrophy

Rhee

Reichel

Rogers

et al. 2007

Journal of American Association for Pediatric Ophthalmology and

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“…Thus, the findings of these studies, using different methods of investigation, are compatible with the hypothesis that human susceptibility to ARM might be genetically determined. Recently, Small et al [1992a] described a large family with a particular form of non-age-related macular dystrophy. They were able to trace an extensive pedigree with this condition which had many phenotypic variants.…”

Section: Introductionmentioning

confidence: 99%

Sibling correlations and segregation analysis of age‐related maculopathy: The beaver dam eye study

Heiba¹,

Elston²,

Klein

et al. 1994

Genetic Epidemiology

231

128

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Sibling correlations were evaluated and segregation analysis was performed on age-dependent maculopathy scores of the right and left eyes of individuals from 564 families in the Beaver Dam Eye study. There is evidence of significant sibling correlations. The data fit a mixture of two normal distributions, especially after undergoing the Box and Cox power transformation. In each eye, the hypothesis of mendelian transmission of a major effect cannot be rejected under the tau AB free model, but is rejected under the tau's free model. The hypothesis of a random environmental major effect is rejected. Similar major gene parameter estimates are found for both eyes. The results are consistent with a major effect accounting for 62% and 59%, in the right and left eyes, respectively, of the determination of age-related maculopathy scores. A single major gene can account for about 89% and 97% of this variability due to a major effect, or for about 55% and 57% of the total variability, in the right and left eyes, respectively.

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“…5 This has led to the conclusion that the two disorders represent a single nosological entity and, therefore, have to be considered allelic.…”

mentioning

confidence: 99%

An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).

Sauer

Schworm²,

Ulbig³

et al. 1997

Journal of Medical Genetics

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North Carolina Macular Dystrophy and Central Areolar Pigment Epithelial Dystrophy

Cited by 46 publications

References 7 publications

Subfoveal choroidal neovascularization in a 3-year-old child with North Carolina macular dystrophy

Subfoveal choroidal neovascularization in a 3-year-old child with North Carolina macular dystrophy

Sibling correlations and segregation analysis of age‐related maculopathy: The beaver dam eye study

An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).

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