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Competing Interests: Competing interests: None declared.

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.

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.

A healthy 5-month-old boy presented with a sporadic unilateral right-sided sectorial ectropion uveae, anterior insertion of the iris root, increased IOP, and glaucomatous disk changes. The absence of other additional ocular anomalies and the appearance of the angle led to a diagnosis of congenital iris ectropion syndrome. IOPs became refractory to maximal topical therapy, and trabeculotomy surgery was performed. The patient has since been stabilized on topical agents., (Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

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., (Copyright © 2012 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

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., (Copyright 2010, SLACK Incorporated.)

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.

Aims: Iris epithelial cysts, congenital or acquired, are rare tumors of the anterior chamber. The use of ultrasound biomicroscopy (UBM) and high-resolution echography (50 MHz) specified the diagnosis and confirmed the developmental hypothesis., Methods: UBM examination with general anesthesia can provide very good vision of cysts and iris structure similar to histological examination. Successive slices are systematically produced. We report two cases: one in a 3-month-old boy with a pupillary type of pigment epithelial cyst and one in a 23-month-old boy with stromal iris cyst provides new information on iris cysts., Results: UBM can clearly differentiate two types of cyst, with results similar to histological slice examination. UBM slices of iris edge cysts show small cellular parietal groups with stromal echogenicity, with no visible tissular continuity. The stromal cyst has no particularity and no echogenicity., Discussion: The pupillary type of pigment epithelial cyst was generally recognized very early. The great majority of primary iris cysts, particularly those that arise from the iris pigment epithelial layers, are stable lesions that rarely progress or cause visual complications. Their slow progression could be explained by embryological history. Based on a comparison between the aspects of the two observations, the absence of enlargement of the cyst could be explained by the developmental mechanism., Conclusion: The advantage of the UBM in diagnosis is confirmed for very young patients, but also in developmental investigations. These case reports also corroborate the migration cellular theory during eye development to explain the appearance of the pupillary type of pigment epithelial cyst.

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.

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.

Congenital cysts of the iris stroma are extremely uncommon and only a few cases have been reported. The vast majority of reported cases have been found in infants or children as a unilateral, translucent mass in the middle or peripheral third of the iris. 1-3 Although these cysts may remain dormant for years, they have a tendency to enlarge, causing corneal decompensation, secondary glaucoma, and eye pain. 2 Occasionally, they have been mistaken for iris melanomas leading to enucleation. 4,5 We describe a 14-year-old girl with a congenital cyst of the iris stroma, which over a period of 8 years enlarged, became opaque resembling melanoma, and required surgical excision.

Background: A unilateral congenital pupil-iris-lens membrane with goniodysgenesis syndrome, not benign tunica vasculosa lentis, was first described by Cibis et al. One of three cases developed angle closure. Robb described catastrophic vision loss from angle closure in one of his seven cases., Methods: We did a retrospective review of previously unreported cases of pupil-iris-lens membrane with goniodysgenesis seen in our practices., Results: We report the clinical spectrum of a further nine cases, three of which needed surgery for angle closure, two of which needed surgery for clearing the visual axis., Conclusion: Congenital pupil-iris-lens membrane with goniodysgenesis is a unilateral membrane clearly differentiated from benign persistent tunica vasculosa lentis tissue. The membrane represents ectopic iris on the lens with abnormal iris stroma and 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. Surgery may be needed to open the visual axis even when glaucoma is not present and may prevent angle closure.

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.

Background: Multiple cysts of iris and ciliary body may cause many complications such as acute or chronic angle closure glaucoma., Patient: We present a boy with multiple congenital cysts of the iris pigment epithelium and a voluminous cyst of the unpigmented ciliary body epithelium of the right eye. This resulted in lenticular astigmatism, concomitant strabismus divergens and subsequently to anisometropia. The voluminous cyst (8 x 12 mm in diameter) was folded around the lens, reached the optic axis and resulted in displacement of the lens and contact between the iris and the corneal endothelium from 6.30 to 11. After puncture and partial resection of the cyst at the age of 8 months the boy developed a subcapsular multivesicular cataractic clouding of the temporal lens and a progredient myopia (up to - 14.0/- 2.0/0 degrees ); in contrast the left eye was hyperopic (+ 3.5/- 3.75/0 degrees ). The lens was subluxated superonasally due to congenital damage of the zonular fibres. Because development of visual acuity seemed limited by these determinants (20/200 at the right eye), cataract surgery with posterior capsulorhexis, anterior vitrectomy, and implantation of a capsular tension ring and posterior chamber intraocular lens was performed at the age of nearly five. Actually, there is an orthotropia, best corrected visual acuity in the distance of 20/32 in the right and 20/20 in the left eye; binocular vision is somewhat restricted., Conclusion: Usually congenital cysts are clinically not very relevant; occasionally surgical intervention is required to ensure adequate development of visual acuity.

Purpose: To investigate a new way in the treatment of serious congenital persistent pupilary membrane., Methods: In four cases of six eyes, after temporal clear corneal tunnel incision was made, viscoelastic material was injected into the anterior chamber, and the persistent pupilary membrane was cut down at the very point connected to the iris., Results: There is no ocular hypertention and hyphema after operation. After one year's follow-up, the lens remained transparent in 3 cases(4 eyes). There was corneal astigmatism of 0.12 to 0.25 D after operation. And only a few corneal endothelial cells were lost., Conclusion: There are few postoperative complications and corneal astigmatism to incise congenital persistent pupilary membrane by temporal clear corneal tunnel incision. It is an ideal way to treat serious persistent pupilary membrane.

Background: In 1986 Cibis and associates described 2 children with a new type of congenital pupillary-iris-lens membrane with goniodysgenesis that was unilateral, sporadic, and progressive. These membranes were different from the common congenital pupillary strands that extend from 1 portion of the iris collarette to another or from the iris collarette to a focal opacity on the anterior lens surface. They also differed from the stationary congenital hypertrophic pupillary membranes that partially occlude the pupil, originating from multiple sites on the iris collarette, but not attaching directly to the lens., Case Material: The present report is an account of 7 additional infants with congenital iris membranes, similar to those reported by Cibis and associates, which caused pupillary distortion and were variably associated with adhesions to the lens, goniodysgenesis, and progressive occlusion or seclusion of the pupil. Six of the 7 patients required surgery to open their pupils for visual purposes or to abort angle closure glaucoma. A remarkable finding was that the lenses in the area of the newly created pupils were clear, allowing an unobstructed view of normal fundi., Conclusion: This type of fibrous congenital iris membrane is important to recognize because of its impact on vision and its tendency to progress toward pupillary occlusion. Timely surgical intervention can abort this progressive course and allow vision to be preserved.

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.

Although the Nd:YAG laser is most commonly used to perform posterior capsulotomies after cataract surgery, it has also been used to treat a variety of other anterior segment abnormalities including tractional corectopia, iridocorneal adhesions, persistent pupillary membranes, and posterior synechiae. Numerous reports on the use of the Nd:YAG laser to treat structures in the anterior segment have emphasized the need to use higher pulse energy for pupillary membranes, compared with the lower settings required for posterior capsulotomy. Steinert and Puliafito noted that single pulses of 4 to 12 mJ may be required to treat pupillary membranes "in a manner similar to that of a stonemason chipping at marble" in their description treating a membrane considerably thicker than what we describe. We report the successful treatment of tractional corectopia due to an anterior membrane strand in a child with only 2 mJ of total energy.

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.

Purpose: We want to present a case of bilateral, unusually large pigment epithelial cysts of the iris., Patient: A four-year old girl presented with multiple, un-usually large, bilateral pigment epithelial iris cysts and tags at the pupillary margin. The right eye additionally presented with two adhesions of the cysts at the corneal endothelium. Otherwise, the anterior and posterior segment as well as the intraocular pressure were normal. The visual acuity was at least 0.8 without glasses, and there was no evidence of strabism or other functional impairments. At normal daylight and with non influenced pupils, the visual axis was not covered by the cysts. Since the lesions anamnesti cally appeared to be congenital and the clinical course had been benign, no therapy was initiated. The patient has been checked on at regular intervalls without any functional or morphological change., Conclusion: Pigment epithelial cysts of the iris usually do not cause any complications due to their small size and stationary clinical course. In rare cases, the lesions can be so large, that they get into contact with the corneal endothelium and sometimes nearly cause visual impairment by covering the visual axis.

Background: Iris arteriovenous communication (IAVC) represents a quite rare congenital anomaly, consisting of abnormal vascular connection bypassing the iris capillary bed. The aim of the present study is to describe clinical and angiographic pattern of IAVC on iris fluorescein angiography (IFA) and on indocyanine green videoangiography (IICGV)., Methods: During a mean follow-up period of 33.5 months, eight patients affected by IAVC underwent at least three ophthalmological examinations completed by IFA and IICGV., Results: IFA allows the detection of IAVC vascular structures, evidencing afferent and efferent branches, which show a rapid filling, without any evidence of leakage or iris hypoperfusion. IICGV shows more precisely the entire vascular pattern of IAVC, revealing also the presence of iris hypoperfusion in the sector in which the IAVC lay. One patient underwent cataract surgery; three months later, two neovascular tufts appeared in the hypoperfused area related to IAVC. In all other patients, periodical examinations did not reveal any clinical or angiographic changes., Conclusion: In IAVC, the clinical picture appears stable throughout the follow-up; both angiographic techniques seem able to precisely delineate the vascular pattern. Nevertheless, IICGV is superior in showing iris hypoperfusion surrounding the vascular abnormality. Particular care must be drawn to patients affected by IAVC who need cataract surgery.

Primary congenital ectropion uveae is an extremely rare ocular malformation frequently associated with unilateral glaucoma. We report on a 15-year-old boy with unilateral congenital ectropion uveae, glaucoma and transvitreal strands in an optically empty vitreous. Dark adaptation was normal, but scotopic ERG showed subnormal b-wave amplitudes in the affected eye, which is a typical finding in hereditary vitreoretinal degenerations. The coincidence of primary congenital ectropion uveae and unilateral vitreoretinal degeneration without a family history seems to be sporadic and very extraordinary but could be due to a common defect of maturation.

Persistent pupillary membranes are common congenital disorders. To reduce the surgical complications, we used vitreous scissors instead of conventionally used Vannas scissors to remove the membrane and reviewed the surgical results. Five eyes of 4 children with persistent pupillary membrane were treated by surgery. Through the 1.5 mm limbal incision, the membrane was removed by using vitreous scissors after intracameral sodium hyaluronate. After 22.6 months follow-up, all pupils of operated eyes were round and no complications associated with the surgery were found. Three eyes showed improved visual acuities after the operation. We suggest that the surgery with vitreous scissors is better than with Vannas scissors.

Purpose: To determine whether there is a locus for iridogoniodysgenesis (IGD)/ familial iris hypoplasia in the region of the known Axenfeld-Rieger syndrome (ARS) locus at 4q25 and to determine the ocular phenotype within the autosomal-dominant iris hypoplasia group of disorders., Methods: Clinical examinations were performed on 27 members, with 11 affected from one family in which the IGD occurred in association with the nonocular features of ARS, and on 70 members with 30 affected from a second IGD family with ocular features only. Family members were genotyped for markers within the 4q25 region known to contain a locus for ARS. LOD scores were calculated with the MLINK option of the LINKAGE program., Results: The iris hypoplasia in each IGD family was similar. In the IGD family with only ocular features (IGD anomaly), however, a majority of those affected had a goniodysgenesis with excess tissue in the angle and anomalous angle vascularity. These findings were absent in the IGD family with syndromic features (IGD syndrome). Linkage to the 4q25 region was excluded in the IGD anomaly family, whereas the family with IGD syndrome was found to be completely linked to the 4q25 region (peak LOD score with D4S407 of 7.827 at theta = 0.00)., Conclusions: The authors' results suggest that mutations at the 4q25 locus can result in variable ocular features that also occur in combination with nonocular (dental and jaw) anomalies. Mutation of a separate locus must underlie IGD with ocular features only. A re-evaluation of the relation between the various forms of autosomal-dominant iris hypoplasia, therefore, may be warranted.