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Purpose: To describe a family with apparently dominant and highly penetrant atopy with early onset keratoconus. Mutation and linkage analysis was carried out in order to elucidate the genetic basis of atopy with keratoconus in this family. Methods: Twelve members of two generations of a family were assessed for a history of atopy (asthma, eczema), and decreased vision. Clinical examination included: visual acuities, slit lamp examination, refraction, and computerised corneal topography (TMS -1). Mutation screening within the gene encoding the beta - subunit of the high affinity IgE receptor was carried out. Results: Of the 12 patients investigated, 7 had a strong atopic history and 7 had keratoconus or suspected keratoconus. Of the 7 atopic patients 6 eyes had keratoconus, and 3 were classified as suspect keratoconus. Keratoconus and suspected keratoconus was found in a total of 12 eyes, (8 + 4 respectively). However, of the atopic group 3 had keratoconus or suspect keratoconus before age ten. Mutation screening (as described above) demonstrated no evidence of the presence of polymorphisms in this family. Conclusions: A family with early onset highly penetrant keratoconus associated with atopy is presented, with reference to genetic studies.


Journal article


Investigative Ophthalmology and Visual Science

Publication Date