Forme familiale de la dystrophie cornéenne de Fuchs

Mortelmans, L. L.

doi:10.1159/000301139

Cited by 9 publications

(2 citation statements)

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“…Dohlman [15] described in 1951 a large family in which 18 members (11 females, 7 males) had cornea guttata and anterior polar cataracts. In 1952, Mortelmans [16] reported on a family containing 8 members in two generations having endothelial dystro phy with edema. They were all females rang ing in age from 37 to 60 years.…”

Section: Commentsmentioning

confidence: 99%

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Inheritance of Endothelial Dystrophy of the Cornea

Krachmer¹,

Bucher²,

Purcell³

et al. 1980

Ophthalmologica

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64 families containing a proband with corneal endothelial dystrophy were examined in order to study the hereditary nature of the disease. Data concerning the frequency of occurrence, severity of the disease, ratio of affected females to males, relationship of the disease with age, and other factors were the subject of a previous report. 7 pedigrees which reflect features of endothelial dystrophy within the 64 families are presented. These features include multiple females in a family being affected, multiple consecutively affected generations, the occurrence of offspring with disease more severe than the parent, and endothelial decompensation (edema) at a relatively young age (less than 40 years of age). The importance of examining family members whenever possible rather than relying on history alone is emphasized. A statistical analysis of the inheritance pattern was performed. Endothelial dystrophy does not seem to follow a strict autosomal dominant pattern even though superficial inspection suggests autosomal dominant inheritance (both males and females affected, successive generations affected, 38% of relatives over the age of 40 years affected). Even though we were unable to determine a specific genetic mode of inheritance in these 64 families with endothelial dystrophy, we do feel that endothelial dystrophy is at least in part an inherited disease. Future investigations might prove sex-linked dominance, genetic heterogeneity, the influence of environmental factors, or a multifactorial etiology.

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Section: Commentsmentioning

confidence: 99%

“…The first contained 2 brothers and 3 sisters and the second contained 2 sisters. These authors felt that analysis of a combination of their 2 families and the family of Mortelmans [16] indicated that Fuchs' corneal dystrophy dem onstrates dominant inheritance.…”

Section: Commentsmentioning

confidence: 99%