CYSTINOSIS is a metabolic disorder that is better known to pediatricians than to ophthalmologists. The reason is that all of the victims are infants and children and do not live to become adults. Most of the discussion concerning the condition is in the pediatric literature, where the disorder may be known by various names, such as the de Toni-Fanconi syndrome, renal rickets, or intractable rickets. McCune and associates,1 in discussing the group of cases with hypophosphatemic rickets, renal glycosuria, and acidosis, occasionally accompanied by cystinosis, remarked, "The state of the subject remains confused; it is, however, not quite chaotic." It is certainly confusing to one who is not skilled in biochemistry.
At this writing only three cases have been reported in the American ophthalmic literature—those of Walsh and his co-workers2 and that of Kennedy.3 We wish to add two cases, as it seems certain that the condition
GOAR EL, DE LA MOTTE GW. CYSTINE CRYSTALS IN THE CORNEA AND CONJUNCTIVA. AMA Arch Ophthalmol. 1954;51(3):336-342. doi:10.1001/archopht.1954.00920040342007