摘要:

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.

ISSN:0030-3755    

DOI:10.1159/000309068

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

Blood staining of the cornea was studied by light and electron microscopy: a 55-year-old male with Hansen’s disease had blood staining of the cornea due to intracorneal hemorrhage; he received a partial-thickness keratoplasty following 1 year after the onset of the staining. The excised specimens revealed deposits of degraded erythrocytes in the stroma. Numerous dense granules, probably of erythrocytic breakdown products, were phagocytosed by macrophages as well as parenchymal cells. The presence of macrophages was limited to the middle part of the stroma in which newly formed vessels were remarkable.

ISSN:0030-3755    

DOI:10.1159/000309069

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

Protein deficiency increases the susceptibility of the host to infection. Depressed phagocytic function, fall in non-specific protective substances of the serum, and poor immune response have all been recorded in the literature. The malnourished population exhibit recurrent ocular infections. The role of local defence mechanisms, principally lysozyme, is not known hitherto. In the present report, protein-deprived weaning Wistar rats showed a significant reduction in lysozyme tested against Staphylococcus afermentas.

ISSN:0030-3755    

DOI:10.1159/000309070

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

A case of bilateral abducens nerve palsy after head injury without skull fracture, haematoma or cerebral damage, is described. The clinical conditions, the laboratory findings and the probable pathogenetic mechanisms are discussed.

ISSN:0030-3755    

DOI:10.1159/000309071

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

A 7-year-old girl with ataxia telangiectasia is described. The characteristic clinical features suggested the disease but did not seem definite enough to diagnose the disease with certainty in its early stages. Arguments are advanced to suggest that our presently accepted diagnostic criteria in this condition are confirmed by computerized tomography scans.

ISSN:0030-3755    

DOI:10.1159/000309072

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

The authors discuss the incidence of angiofibroma in 380 cases of tumors arising from the paranasal sinuses and the nasopharynx, producing exophthalmos. They describe 2 of their cases and discuss etiology and treatment.

ISSN:0030-3755    

DOI:10.1159/000309073

出版商:S. Karger AG    

年代:1980

数据来源: Karger

摘要:

Although there is both a morphological resemblance of the photoreceptors and an electroretinographic similarity, in man and in the horse, in the latter there is no proper macula. Moreover, over the whole of the retina of the horse, the rods predominate over the cones.

ISSN:0030-3755    

DOI:10.1159/000309074

出版商:S. Karger AG    

年代:1980

数据来源: Karger

ISSN:0030-3755    

DOI:10.1159/000309075

出版商:S. Karger AG    

年代:1980

数据来源: Karger

ISSN:0030-3755    

DOI:10.1159/000309076

出版商:S. Karger AG    

年代:1980

数据来源: Karger

ISSN:0030-3755    

DOI:10.1159/000309077

出版商:S. Karger AG    

年代:1980

数据来源: Karger