Gil-Gibernau J, Galan A, Callis L, Rodrigo C
J Pediatr Ophthalmol Strabismus. 1982 Jul-Aug;19(4):7-11. doi: 10.3928/0191-3913-19820701-04.
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.
本文讨论了4例患有高度先天性近视和非典型黄斑缺损的婴儿特发性高钙尿症病例；其中2例为兄妹。眼科检查显示，每例均为双侧先天性近视，度数超过10屈光度。眼底检查发现，其中2例为双侧黄斑缺损性病变，其余为单眼病变。高钙尿症被认为是由于肾小管畸形所致。本文讨论了黄斑非典型缺损的发病机制，并对畸形、营养不良和炎症假说进行了评论，摒弃了常见的炎症病因。我们在文献中仅发现2例与这些病例相似的情况。鉴于上述三种临床特征各自相对罕见，我们认为可能存在一种新的眼肾综合征，而非偶然关联。
