Introduction : If the eye is the window to the soul, this is mainly dependent on the clarity of the cornea. With a clouded cornea the eye is dead and the soul invisible.
Recurrent corneal erosions are a common complication of superficial corneal wounds. They most commonly arise following a trauma, in association with various corneal dystrophies, or are idiopathic. The main aim of this thesis was to investigate two hereditary corneal diseases with recurrent erosions in order to find out if they had been described before, and more specifically to describe the clinical picture and the morphological changes, differentiate them from other known autosomal dominant corneal dystrophies with a clinical resemblance, and to exclude genetic linkage to known corneal dystrophies with autosomal-dominant inheritance and a clinical resemblance.The thesis is based on two families of subjects belonging to different phenotypes. The subjects from Småland (Dystrophia Smolandiensis) belonged to a six-generation family, which included 171 individuals of whom 44 were affected individuals, and the family from Hälsingland (Dystrophia Helsinglandica) included sevengenerations of 342 individuals, of whom 84 were affected. The individuals in both families were investigated by collection of medical history through medical records and questionnaires assessing different aspects of the diseases, pedigree analysis, and from clinical examination. Haplotype analysis was used to exclude genetic linkage of both diseases to known autosomal-dominant corneal dystrophies with a clinical resemblance…
Contents
INTRODUCTION
The morphology and physiology of the cornea
The development of the cornea
Corneal dystrophies
Corneal erosions
Recurrent corneal erosions
Corneal wound healing
Genetics
AIMS OF THE STUDY
SUBJECTS AND MATERIALS
Dystrophia Smolandiensis – Papers I and II
Dystrophia Helsinglandica – Papers III and IV
METHODS
Medical history and clinical ophthalmological examination – Papers I,II,III, and IV
Pedigree analysis – Papers I and III
In-vivo confocal microscopy – Papers II and IV
Noncontact gas esthesiometer – Paper IV
Statistics – Paper IV
Histopathology – Paper II
Immunohistochemistry – Paper II
Videokeratography – Paper IV
Polymerase chain reaction – Papers I and III
RESULTS AND DISCUSSION
Dystrophia Smolandiensis – Papers I and II
Dystrophia Helsinglandica – Papers III and IV
COMPARISON OF DYSTROPHIA SMOLANDIENSIS AND
DYSTROPHIA HELSINGLANDICA
CONCLUSION
ACKNOWLEDGEMENTS
REFERENCES
Author: Hammar, Björn
Source: Linköping University
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