Infantile idiopathic hypercalciuria, high congenital myopia, and atypical macular coloboma: a new oculo-renal syndrome?
Four cases of infantile idiopathic hypercalciuria with high congenital myopia and atypical macular coloboma are discussed; two of them are brother and sister. The eye examination shows bilateral congenital myopia of more than 10 diopters in every case. In the fundus examination, there is a bilateral macular colobomatous lesion in two of them and monocular lesion in the remaining ones. Hypercalciuria is considered to be due to renal tubulus malformation. The macular atypical coloboma etiopathogenesis is discussed, with comment on the malformative, dystrophic and inflammatory hypothesis, having discarded the usual inflammatory etiologies. We have only found two cases similar to these in the literature, Given the relative scarce occurrence of each of the three mentioned clinical features we suggest the possibility of a new oculo-renal syndrome rather than a coincidental association.
D000293:Adolescent; D002118:Calcium / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007669:Kidney Calculi / Q000150:complications; D007684:Kidney Tubules / Q000002:abnormalities; D008266:Macula Lutea / Q000002:abnormalities*; D008297:Male; D009216:Myopia / Q000150:complications*; D013577:Syndrome
D002118:Calcium