Objective: To assess the role of heredity in the development of kerato
conus. Design: Prospective study, Setting: Eye clinic providing second
ary and tertiary ophthalmic care in Toronto. Patients: Thirty-nine pat
ients with keratoconus (57 eyes) and 48 relatives of 11 patients with
keratoconus. The corneal topography of the family members was compared
with that of a group of 68 volunteer control subjects (136 eyes) with
out clinical evidence or a family history of keratoconus. Outcome meas
ures: Three quantitative measures derived from computerized videokerat
ography: the relative steepness of the inferior cornea versus the supe
rior cornea, central corneal power and the difference in central corne
al power between the two eyes. All the data were statistically analyse
d with the use of nonparametric discriminant analysis. Results: Fiftee
n family members who were believed to be clinically normal on the basi
s of refraction, keratometry and slit-lamp examination had statistical
ly significant topographic abnormalities suggestive of early or mild k
eratoconus. Conclusions: The presence of these findings in family memb
ers of patients with keratoconus may represent the incomplete expressi
on of a gene contributing to the development of the condition. Pedigre
e analysis suggested an autosomal dominant inheritance pattern in 9 of
the 11 families. Our results underline the value of videokeratography
for accurate family pedigree analysis and the diagnosis of keratoconu
s.