Bilateral juvenile glaucoma with iridotrabecular dysgenesis, congenital ectropion uveae, and thickened corneal nerves

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

“…15,16 The degree of ectropion uveae in the current case series was only slightly anterior to the pupillary rim, less extensive than has been described in previously reported cases. [13][14][15][16][17][18] Mutation in PAX6, FOXC1 and PITX2 was not found in those patients with ectropion uveae and partial anirida in our cohort who underwent such testing; however, we are aware of 2 prior reports of non-syndromic newborn glaucoma with clinical aniridia that were associated with heterozygous FOXC1 mutations. 19,20 These 2 unrelated Saudi children had more extensive lack of iris tissue and did not have ectropion uveae.…”

“…13,14 Typically unilateral and associated with juvenile onset or congenital glaucoma, the finding has been reported in the iris ectropion syndrome, Axenfield-Rieger spectrum, Prader-Willi syndrome, neurofibromatosis, and in one case of variant PAX6-related aniridia without glaucoma. [15][16][17][18] We are aware of two previously reported patients with the finding bilaterally, both of whom later developed glaucoma. 15,16 The degree of ectropion uveae in the current case series was only slightly anterior to the pupillary rim, less extensive than has been described in previously reported cases.…”

“…[15][16][17][18] We are aware of two previously reported patients with the finding bilaterally, both of whom later developed glaucoma. 15,16 The degree of ectropion uveae in the current case series was only slightly anterior to the pupillary rim, less extensive than has been described in previously reported cases. [13][14][15][16][17][18] Mutation in PAX6, FOXC1 and PITX2 was not found in those patients with ectropion uveae and partial anirida in our cohort who underwent such testing; however, we are aware of 2 prior reports of non-syndromic newborn glaucoma with clinical aniridia that were associated with heterozygous FOXC1 mutations.…”

“…19,20 These 2 unrelated Saudi children had more extensive lack of iris tissue and did not have ectropion uveae. [13][14][15][16][17][18] Mild ectropion uveae with partial aniridia as observed in our cohort may have been a developmental effect on the iris from the CYP1B1 mutation itself or from high intraocular pressure in utero.…”

A Rare Case Report of Unilateral Congenital Ectropion Uveae (CEU) with Iridotrabecular Dysgenesis, Juvenile Glaucoma and Ptosis

“…It is considered as a disorder of neural crest cells. [1][2][3][4][5] Usually unilateral, the condition is frequently associated with ipsilateral glaucoma due to iridotrabecular dysgenesis. 6 Neurofibromatosis is the most commonly associated systemic disorder.…”