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January 1960

Ocular Pathology of Cystinosis: With Particular Reference to the Elusiveness of the Corneal Crystals

Author Affiliations

Howe Laboratory of Ophthalmology, Harvard University Medical School, Massachusetts Eye and Ear Infirmary.

AMA Arch Ophthalmol. 1960;63(1):51-57. doi:10.1001/archopht.1960.00950020053008

The clinical manifestations of cystinosis in the eye have been repetitively documented. Tinsel-like opacities are regularly seen in the cornea with this disease and their slitlamp appearance is pathognomonic of the condition. Biopsies of the conjunctiva in something less than a dozen cases have uniformly shown the presence of cystine crystals similar to those found elsewhere in the body. Yet to our knowledge, histologic examination of the whole eye, permitting microscopic study of the cornea, has been reported only twice.* The first case, reported by Bürki,1 is said to have shown crystals in the cornea similar to those in conjunctiva but "not present in all the sections." The second case, reported by Garron,2 revealed no microscopic evidence of crystals in the cornea. This was surprising (and disappointing) to the author since the crystals had been abundantly present prior to fixation and the alcoholic fixative could not have dissolved

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