Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1: new insights.

OBJECTIVE: To describe the clinicopathologic features of congenital ectropion uvea associated with glaucoma in neurofibromatosis-1 (NF-1). DESIGN: Retrospective case series. PARTICIPANTS AND CONTROLS: Five cases of NF-1 associated with glaucoma, from which enucleated eyes were available, and 2 eye bank eyes used as controls. METHODS: The clinical features and courses of these patients were reviewed. Formalin-fixed, paraffin-embedded eyes were examined by light and electron microscopy. Immunohistochemistry using antineurofibromin, anti-glial fibrillary acidic protein, and antivimentin was performed in 3 patients. Gene expression of the mitogen-activated protein kinase (MAPK) signaling pathway was examined in corneal endothelial cells in 1 patient. MAIN OUTCOME MEASURES: Cause of glaucoma in patients with ectropion uvea and NF-1. RESULTS: The age of patients at the time of glaucoma diagnosis ranged from birth to 13 years. Four of the 5 patients had megalocornea and buphthalmos at presentation. Ectropion uvea was noted clinically in 2 patients, but was demonstrated histopathologically in all 5 patients. On histopathologic examination, all patients had varying degrees of angle closure secondary to endothelialization of the anterior chamber angle. Uveal neurofibromas were noted in all patients; anteriorly displaced ciliary processes were noted in 4 of 5 patients who demonstrated ciliary body involvement with neurofibromas. Absence of Schlemm's canal was observed. The endothelial cells lining the closed angle demonstrated positive stain results with the vimentin antibody. Positive antineurofibromin immunolabeling was detected in normal control corneal endothelium, but was absent in corneal endothelium in patients with endothelialization of the angle. Upregulation of genes from the MAPK signaling pathway was demonstrated in the corneal endothelial cells isolated from the NF-1 eyes. CONCLUSIONS: Ectropion uvea in NF-1 glaucoma is secondary to endothelialization of the anterior chamber angle and is associated commonly with severe pediatric glaucoma in NF-1 patients. The endothelial cell proliferation may be related to overexpression of the Ras (Rat sarcoma)-MAPK genes in these eyes.

Iris transillumination defects associated with pallister-killian syndrome.

This report describes a new finding of iris transillumination defects in Pallister-Killian syndrome, a rare multi-system disorder resulting from mosaic tetrasomy of the short arm of chromosome 12.

A rare case of persistent pupillary membrane: Case-based approach and management.

Persistent pupillary membranes (PPMs) are a common congenital anomaly seen in 95% of neonates. Extensive PPMs, occluding the visual axis and resulting in reduced visual acuity, are relatively uncommon. We describe a case of bilateral total PPM in a 36-year-old female who presented with complaints of blurred vision in both the eyes. Dense pupillary membranes obscuring the visual axis need early surgical treatment. It is essential that the lens status remains clear along the visual axis both before and after pupilloplasty.

A case of bilateral iris mammillations with unusual pupillary appearance and pseudo-hypertension.

Iris mammillations are congenital abnormalities characterised by villiform elevations regularly spaced on the surface of the iris. The aetiology of iris mammillations is unknown. They can be either isolated or associated with melanocytosis involving the uveal tract and the periocular tissue, resulting in a risk for uveal melanoma. These lesions can be complicated by high intraocular pressure and, in the case of associated melanocytosis of the iris, sclera or periocular tissues, by uveal melanoma. Patients with iris mammillations should be followed regularly due to these potential complications. We report a case of bilateral iris mammillations with unusual pupillary appearance and pseudo-hypertension and emphasise the importance of iris mammillations and that central corneal thickness should be considered when intraocular pressure is measured.

Bilateral Congenital Iris Sphincter Agenesis Diagnosed After Massive Bleeding Episode During Repair of Aneurysmal Dilation of Patent Ductus Arteriosus: A Case Report.

We report a rare case of an infant with both an aneurysmal dilation of the patent ductus arteriosus (PDA) and bilateral congenital iris sphincter agenesis. Her mydriasis without pupillary light reflex was first noted after a massive intraoperative bleeding episode during the PDA ligation. The assumption that the mydriasis was a sign of cerebral ischemia led to additional examinations and intensive medical therapies that in retrospect were unnecessary. This is the first reported case of combined aneurysmal dilation of a PDA and congenital iris sphincter agenesis in the anesthesia literature.

Management of congenital nonpigmented iris cyst.

PURPOSE: Previously reported clinical outcomes after treatment of congenital iris cysts have been poor, complicated by cyst recurrence and vision loss. Our purpose was to evaluate the outcomes of surgical excision and microdiathermy of congenital iris cysts. DESIGN: Interventional retrospective case series. METHODS: Four patients (3 children, 1 adult) were treated for a congenital iris cyst based on history and clinical presentation. After cyst excision with caution to avoid cyst rupture, the base of the cyst was treated with microdiathermy. MAIN OUTCOME MEASURE: Presence or absence of a residual cyst after surgical intervention. RESULTS: In all 4 patients, histopathological findings confirmed the diagnosis of a congenital iris cyst. Follow-up periods ranged from 1.4 to 6.2 years (mean +/- standard deviation, 4+/-2). Vision loss did not occur in any of the treated eyes. No cyst recurrence was noted after initial surgical treatment. CONCLUSION: A modern microsurgical technique with adjunctive use of microdiathermy provides improved outcomes in the surgical management of congenital iris cysts. We believe that microdiathermy applied to the base of the cyst removes residual epithelial tissue that accounted for the recurrences documented in previous reports.

Pupillary-iris-lens membrane with goniodysgenesis: a case report.

We describe a rare case of pupillary-iris-lens membrane with goniodysgenesis, a unilateral neurocristopathy. The membrane represents ectopic iris on the lens with abnormal iris stroma and anterior chamber angle from aberrant induction, migration or regression of neural crest cells. The membrane can be progressive. Catastrophic vision loss from angle closure can occur and may be controlled with surgery. This subject needed treatment for amblyopia.

Strategies for the Management of Congenital Iris Cysts.

Iris cysts can arise from iris pigment epithelium or stroma. We present 3 cases of iris cysts which have been managed in different ways. In a one-month neonate, cyst was punctured with keratome and gentle diode laser endophotocoagulation was applied to the base. A2.5-month infant presented with watering and blepharospasm since birth. Clear fluid was aspirated from the cyst with a 27-gauge needle and Ethanol 96% (ETOH) was injected into the cyst and then aspirated. It was followed by injection/aspiration of 0.3 ml of balanced salt solution thrice. Cyst wall was excised. A13-month toddler presented with 4-month history of intermittent irritation and photophobia. The cyst was aspirated with a 25-gauge needle and the cyst walls were nibbled with 20-gauge vitrectomy cutter. Excision is better than injection of sclerosing solutions. The aim is to remove the whole cyst to avoid recurrence and to prevent amblyopia.

Congenital cysts of the iris stroma.

We managed three cases of congenital iris stromal cysts and compared them with 22 cases in the published reports to delineate the clinical features of this condition and determine the best treatment. Our first patient, a 5-month-old girl, had injection of a cyst with trichloroacetic acid, but developed a cataract and endothelial damage to the cornea and the eye was eventually enucleated. Our second patient, a 9-week-old girl, was treated with repeated xenon photocoagulation, drainage of the cyst, and cryotherapy, but required enucleation of the eye. Our third patient, a 5-month-old girl, had excision of the cyst by sector iridectomy with preservation of vision and no recurrence two years later. Our results suggest that complete surgical excision is a superior method of treatment for congenital cysts of the iris stroma.

Congenital cysts of the iris stroma.

We studed the clinical and histopathologic findings in two congenital iris cysts, one in a 19-month-old girl and one in a 7-year-old boy. Our second case showed the resilience of these lesions, with the cyst returning to its original size after needle aspiration, argon iridotomy, marsupialization, and excisional iridotomy. Cryogenic therapy was needed to eliminate the cyst. In both cases, histologic studies showed squamous epithelium with few (Case 1) or no (Case 2) goblet cells.

Surgical management of recurrent iris stromal cyst.

PURPOSE: To report the clinical history and surgical management of recurrent congenital iris stromal cyst. METHOD: Case report. Argon laser endophotocoagulation and cryotherapy were used to treat a recurrent iris stromal cyst in an 18-month-old boy. RESULTS: At 43 months of follow-up, there was no recurrence or evidence of epithelial ingrowth. CONCLUSION: Treatment with argon laser endophotocoagulation and cryotherapy resulted in complete resolution of a recurrent congenital iris cyst.

Congenital iris cysts.

Unilateral, spontaneous, non-pigmented iris cysts appeared before the age of 2 years in four patients. Histopathological specimens obtained in three cases showed stratified to cuboidal, non-pigmented, epithelial lined cysts. Goblet cells were recognised in two of the three specimens. The clinical features and histopathological findings indicate that these cysts are derived from surface ectoderm and may be congenital.

Spontaneous congenital non-pigmented epithelial cysts of the iris stroma.

Histopathological and immunohistochemical findings in 11 patients with spontaneous congenital non-pigmented epithelial cysts of the iris stroma were studied. The cysts were lined by stratified squamous to unilayered cuboidal non-pigmented epithelium. Goblet cells were present in nine cysts, indicating a similarity to conjunctival epithelium. The demonstration of higher-molecular-weight keratins and absence of S-100 protein, by monoclonal and polyclonal antibodies, argues for surface ectodermal rather than neuroectodermal origin of the cysts. Theories of embryogenesis have been conflicting, but our results support the theory that they arise from surface ectoderm, displaced probably at the time of lens vesicle formation. The finding of normally sited subepithelial S-100 positive melanocytes may suggest that ectopic conjunctival epithelium can induce normal patterns of migration of neural crest cells.

Excimer laser photorefractive keratectomy in myopic eyes with corectopia.

Corectopia, the eccentric displacement of the pupil, may be associated with other abnormalities such as axial high myopia or ectopia lentis. We report the case of a patient presenting for surgery to correct bilateral myopia of 6.50 diopters (D) associated with corectopia. Excimer laser ablation was decentered and performed on the center of the abnormal pupils. After a 2 year follow-up, best corrected visual acuity was 20/20 with -1.00 D correction in each eye. To our knowledge, this is the first report of excimer laser photorefractive keratectomy for myopia associated with corectopia. The satisfactory results suggest that in abnormally eccentric pupils, excimer laser treatment of myopia may be successful when it is centered on the deviated pupil.

Genetics in pediatric ophthalmology.

Genetic factors are becoming increasingly important causes of both congenital and acquired eye disease in the pediatric age group. Referral to an ophthalmologist is important both for global genetic disorders potentially affecting the eye and for eye disorders that may be diagnostic for genetic disease.

Peters' anomaly with bilateral perisylvian polymicrogyria and abdominal calcification.

We report a neonatal case of Peters' anomaly with bilateral perisylvian polymicrogyria and abdominal calcification. The male infant was born after a normal labor. Bilateral central corneal opacities with iridocorneal strands indicated Peters' anomaly. The X-ray and abdominal computed tomography demonstrated multiple calcifications beneath the diaphragma around the liver and the spleen. TORCH serology was negative. Intracranial calcification was not detected. Brain magnetic resonance imaging demonstrated bilateral perisylvian polymicrogyria. Abdominal calcification was suspected to be related to vascular disruption. Bilateral perisylvian polymicrogyria has been thought to result from ischemic events such as intrauterine hypotension or vascular occlusions. Based on these considerations, we conclude that a vascular disruption sequence may an important pathogenetic mechanism of Peters' anomaly.