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December 2002

Papillorenal Syndrome in a Brazilian Family

Arch Ophthalmol. 2002;120(12):1772-1773. doi:

In reply

We thank Parsa et al for their valuable contribution concerning the appropriate nomenclature for ocular findings and PAX2 mutation. The word "coloboma" is derived from the Greek, meaning curtailed or mutilated. In ophthalmology, a coloboma is any "notch, gap, hole, or fissure in any ocular structures, whether congenital or acquired."1 Primary isolated optic nerve coloboma is considered part of a spectrum of phenotypic expressions of colobomatous malformations, ranging from iris coloboma to orbital cyst. Intermediate in this range is coloboma of the choroid and retina, which may be limited to the quadrant inferonasal to the optic disc or may encompass the optic disc with or without sparing the macula. Coloboma of the optic disc may occur, then, with chorioretinal coloboma or as the only fundus lesion and may result from failure of closure of the most proximal portion of the optic stalk. The disc is enlarged, often vertically oval and always excavated, and the coloboma may involve the entire disc or just the inferior portion. Patients with renal-coloboma syndrome and a PAX2 mutation have ocular abnormalities representing part of the spectrum of colobomatous abnormalities, including optic nerve colobomas, chorioretinal colobomas, and/or orbital cysts, but they do not have iris colobomas2 (Table 1). The patients in our report had a PAX2 mutation with a wide spectrum of phenotypic expression of optic nerve abnormalities, ranging from an optic pit to a large coloboma.3

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