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[Keratoconus in Alagille syndrome].
1Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg.
Klinische Monatsblatter Fur Augenheilkunde
|June 1, 1991
Summary
This study details a rare case of arteriohepatic dysplasia in a young male, presenting with growth issues and skin changes. Notably, he developed bilateral keratoconus, a corneal condition, despite lacking other typical eye complications.
Area of Science:
- Genetics and rare diseases
- Ophthalmology
- Endocrinology
Background:
- Arteriohepatic dysplasia is a rare genetic disorder affecting multiple systems.
- Patients typically present with specific facial features, growth retardation, and endocrine dysfunction.
- Ophthalmological manifestations are common, though variable.
Observation:
- A 20-year-old male with diagnosed arteriohepatic dysplasia was studied.
- He exhibited growth retardation, secondary hypothyroidism, characteristic facial features, skin lichenification, and brachydactyly.
- Bilateral keratoconus with corneal scarring was observed.
Findings:
- The patient presented with bilateral keratoconus and corneal scarring, which are not typically associated with arteriohepatic dysplasia.
- Other common ophthalmological findings in arteriohepatic dysplasia were absent.
- A keratoplasty was successfully performed on the right eye.
Implications:
- This case expands the known spectrum of ophthalmological complications in arteriohepatic dysplasia.
- The pathogenesis of keratoconus in this specific genetic context remains unclear.
- Further research is needed to understand the link between arteriohepatic dysplasia and keratoconus.