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B. Hammar, H. Lind, E. Bjorck, K. Lagerstedt, A. Dellby, P. Fagerholm; Recurrent Corneal Erosions – Four Families With Autosomal Dominant Inheritance and Four Different Phenotypes . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5901.
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© ARVO (1962-2015); The Authors (2016-present)
To describe four previously not described phenotypes with recurrent corneal erosions.
The phenotypes of the diseases have been explored in interviews and by clinical examination. We describe the medical history and clinical findings in patients from four different families with recurrent corneal erosions.
Based on family history the type of heredity was found to be autosomal dominant in all families. Recurrent erosions was the main symptom, but the phenotypes were otherwise different. Preliminary genetic analysis and clinical appearances strongly indicate that there was no linkage to any known corneal dystrophy with an autosomal dominant inheritance and a clinical resemblance. In family I, the disease often manifested itself during the first year of life in the form of episodes of recurrent erosions. In the other three families the onset was between 4–7 years of age. The symptoms of the erosive episodes tended to decrease in severity between 20 and 40 years of age. In family I, central keloids developed in 52 % of the affected patients and 20% had undergone penetrating corneal grafting due to impaired vision. In family II, subepithelial fibrosis in the midperiphery dominates, but late discreet superficial nodules appear. In family III, the changes develop between 40–50 years of age and consist of thin, curved superficial lines of white fibrosis, with clear cornea in between. In family IV, there are no or minimal corneal changes. In family I, the most potent symptomatic treatment has been a vitamin B combination (B–kombin Forte N®). Most family members who used this drug experienced minimal symptoms or none at all. In family IV, permanent cure was obtained with phototherapeutic keratectomy. In family II and III phototherapeutic keratectomy could improve vision late in life but not cure recurrent erosions.
We describe four new entities of hereditary recurrent corneal erosions. These disorders were not genetically linked to any previously described corneal dystrophy.
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