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Updated: May 23, 2026
Corneal Confocal Microscopy: A Novel Non-invasive Technique to Quantify Small Fibre Pathology in Peripheral Neuropathies
Published on: January 3, 2011
Confocal microscopy of corneal crystals in a patient with hereditary tyrosinemia type I, treated with NTBC
Pieter-Paul Schauwvlieghe1, Jaak Jaeken, Philippe Kestelyn
1Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium. ppschauwvlieghe@hotmail.com
Purpose:
To describe the confocal microscopic findings in a patient with hereditary tyrosinemia type I (HT-I) treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) who developed corneal crystals.
Methods:
In this case study, we describe the confocal microscopic findings in a boy, who was diagnosed with HT-I at the age of 4 months. At 16 years of age, he developed painful corneal lesions in both eyes. On slit-lamp examination, whorl-like branching epithelial corneal lesions were found, staining faintly with fluorescein. His NTBC treatment was stopped and reintroduced at a lower dose after 1 month. The lesions clearly regressed, leaving only mild residual epithelial scarring, without fluorescein staining and without pain. Confocal microscopy was performed in the acute painful stage and in the asymptomatic convalescent stage 5 months later.
Results:
Confocal microscopy confirmed the presence of slender birefringent spiky crystals in the very superficial corneal epithelium. In the asymptomatic convalescent phase, the crystals clearly persisted on confocal microscopy, although they were barely visible on slit-lamp examination.
Conclusions:
This is the first in vivo demonstration by confocal microscopy of corneal crystals present in a patient with proven type I tyrosinemia, under NTBC treatment.
