Bilateral Iris Mammillations in Amblyopic Eyes without Oculodermal Melanocytosis or Neurofibromatosis

Abstract

Purpose Iris mammillations are related to oculodermal melanosis and iris nevi. We report a rare case of bilateral simple iris mammillations without ocular melanosis or systemic neuronal disorders. Case Report A healthy 10-year-old Japanese girl was found incidentally to have bilateral iris mammillations while being treated for amblyopia. The best-corrected visual acuity was 20/40 in both eyes. Ocular examination showed evenly spaced, uniform-size, iris protrusions completely covering the iris surface bilaterally. There were no other ocular or neurological abnormalities. Conclusion To the best of our knowledge, this is the first report of bilateral iris mammillations in Japan. Our case emphasizes that iris mammillations can occur even without ocular melanocytosis or systemic diseases.

An unusual coexistence of iris mammillations and optic disc pit with keratoconus: A case report and literature review

“…[ 8 ] From 1995 to 2018, the reported ocular conditions associated with iris mammillations included myopia, amblyopia, esotropia, congenital ptosis, eyelid trichilemmoma, ipsilateral ocular melanocytosis, oculodermal melanocytosis, scleral pigmentation, iris hamartomas, persistent pupillary membrane, congenital cataract, congenital glaucoma, calcified ciliary body mass, choroidal melanoma, choroidal hemangioma, retinal detachment, optic neuritis, and optic nerve damage. [ 1 2 9 ] Based on these previously reported conditions, keratoconus was reported only recently in 2019. The systemic disorders included congenital heart disease, congenital adrenal hyperplasia, tuberculosis frontal arachnoid cyst, cleft palate, marfanoid habitus, abnormal rib, seizures, ectopic Mongolian spot, preauricular skin tag, clitoris acne, labioscrotal hyperpigmentation, Axenfeld and Peters anomaly, neurofibromatosis Type 1 (NF1), phakomatosis pigmentovascularis Iib, Cowden syndrome, Sturge-Weber syndrome, and nevus flammeus of the face.…”

“…The systemic disorders included congenital heart disease, congenital adrenal hyperplasia, tuberculosis frontal arachnoid cyst, cleft palate, marfanoid habitus, abnormal rib, seizures, ectopic Mongolian spot, preauricular skin tag, clitoris acne, labioscrotal hyperpigmentation, Axenfeld and Peters anomaly, neurofibromatosis Type 1 (NF1), phakomatosis pigmentovascularis Iib, Cowden syndrome, Sturge-Weber syndrome, and nevus flammeus of the face. [ 1 2 9 ] In addition, some cases were reported without other ocular or systemic disorders. [ 1 2 ]…”

“…[ 1 ] In addition to Lisch nodules, the differential diagnosis includes Brushfield flecks, iris melanoma, granulomatous iridocyclitis, iris nevi, Cogan-Reese iridocorneal endothelial syndrome, juvenile xanthogranuloma, and retinoblastoma. [ 1 2 8 10 ] In this case, the typical appearance of mammiform iris protuberances in addition to the absence of iris melanosis and systemic disorders were significant to diagnose this extremely rare ocular condition [ Figure 1 ]. Iris mammillations are distinctive, uniformly elevated, and regularly spaced smooth conical and villiform nodules, which sometimes stellate-like with tiny radiations emanating from the nodules bases, overlying areas of iris hyperpigmentation (naevi or iris melanosis), but not a pigmentary condition per se .…”

“…[ 1 ] It is an ocular condition most commonly associated with ocular melanosis, with or without periocular skin involvement (nevus of Ota), and more prevalent among highly pigmented ethnic groups. [ 1 2 3 ] It is sporadic and usually unilateral. However, bilateral and familial cases have been described.…”

“…Iris mammillations present with heterochromia iridis or iridum and can be associated with an elevated intraocular pressure and intraocular malignancies. [ 1 2 3 ] Optic nerve pit (ONP), also known as optic disc pit (ODP) or optic hole, is a congenital defect resulting from the failure of fetal fissure closure during the embryonic development. It belongs to the congenital cavitary anomalies spectrum, including morning glory, optic disc coloboma, and extrapapillary cavitation.…”