[Autosomal dominant keratoconus as the chief ocular symptom in Lobstein osteogenesis imperfecta tarda].
BACKGROUND
Osteogenesis imperfecta is an autosomal inherited generalized disease of the soft tissue which can be divided into a congenital form (Vrolik) and a late-onset form named Lobstein. As the typical ocular symptom we find blue sclera whereas corneal changes as keratoconus are rarely documented. We report a family of 6 patients, all 5 examined being affected by keratoconus.


METHODS
After a 14-year-period of wearing hard contact lenses due to a keratoconus a 26-year-old female patient developed a painful therapy-resistant keratitis (Acanthamoeba) which afforded a keratoplasty. A history of osteogenesis imperfecta tarda was known since childhood. Five further members in three generations of the family were certainly affected by osteogenesis imperfecta. We examined five patients with a computer-assisted corneal topography analysis system.


RESULTS
Referring to localization and configuration of the keratoconus all of the five patients had a similar degree of affection. Only our patient revealed blue sclera. There was no correlation between the corneal curvature and the degree of affection of the bone. Both the keratoconus and the bone affections had shown no more progression after adolescence.


CONCLUSIONS
With the use of computer-assisted corneal topography analysis we were able to show a keratoconus associated with osteogenesis imperfecta. The typical blue sclera was not found that often in this family. The shape of the keratoconus was similar in localization and configuration. Contrary to the normal progression of keratoconus in this family there was no more progression of refractive changes after adolescence. Association of keratoconus with osteogenesis imperfecta should be considered. Likewise in osteogenesis imperfecta the ophthalmologist should consider keratoconus beside blue sclera.
Beckh
U
U
Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg.
Schönherr
U
U
Naumann
G O
GO
D015823:Acanthamoeba Keratitis / Q000473:pathology; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003261:Contact Lenses / Q000009:adverse effects; D003315:Cornea / Q000473:pathology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007640:Keratoconus / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012590:Sclera / Q000002:abnormalities / Q000473:pathology
Autosomal dominanter Keratokonus als okuläres Leitsymptom bei Osteogenesis imperfecta tarda Lobstein.