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THE OPHTHALMOLOGY OF LIGNAC‐FANCONI DISEASE
Author(s) -
DOUGLAS A. A.,
BICKEL H.
Publication year - 1952
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1952.tb16978.x
Subject(s) - photophobia , medicine , cornea , conjunctiva , sclera , slit lamp , ophthalmology , pathology , dermatology
Summary The ophthalmological appearances in five cases of Lignac‐Fanconi disease have been studied. Jn every case crystalline deposits were seen in cornea and conjunctiva, in two cases in the iris, but never in the lens, vitreous or other media of the eye. Massive deposition was easily recognisable by loupe and may even be suspected by naked eye examination. In less developed cases the crystalline deposits were visible only by use of a slit‐lamp; the application of this technique in uncooperative children is described. Microscopy of a conjunctiva biopsy specimen revealed that the crystals were partly hexagonal, their localisation being intra‐ and extra‐cellular. The ninhydrin test gave a diffusely positive reaction. X‐ray diffraction photography of the biopsy specimen showed the pattern to be entirely characteristic of pure crystalline cysline. In two patients with severe photophobia epithelial lesions of the cornea were shown by staining with fluorescin. This change was absent in the patients without photophobia and is in our opinion the immediate cause of the photophobia. The eye appearances in Lignac‐Fanconi disease are sufficiently characteristic to eliminate any serious diagnostic difficulty.