SUMMARY
Purpose:
In arder to study the genetical theory about the etiology of the keratoconus, this paper presents the clinical and topographical analysis of 12 families in which keratoconus was found.
Methods:
Eighty-seven members of 12 families in which keratoconus was present were evaluated clinically and by corneal topography.
Results:
The keratoconus diagnosis was confirmed in 15 patients, 12 (14%) presented subclinical keratoconus and 8 (9,2%) presented mild topographical abnormalities. Atopy, strabismus, psychological anomalies and Down syndrome were found in these families. The familial occurrence of keratoconus in these families was 20%. Including subclinical keratoconus this occurence would increase up to 33%.
Conclusions:
The pedigree analysis suggested an autossomal dominant inheritance with variable expression in 8 families. Even though the multifactorial inheritance was not excluded.
Key words:
Keratoconus; Etiology; Genetics