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.

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.

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.

Iris en meseta secundario a quistes retroiridianos / Plateau iris secondary to iridociliary cysts

CASO CLÍNICO: Se presenta un caso de iris meseta con glaucoma por quistes iridociliares múltiples unilaterales. Fue tratado con iridotomía Nd:YAG e iridoplastia 360° sin conseguir el control tensional. Finalmente se realizó una facoemulsificación que mejoró la hipertensión. Se hicieron controles gonioscópicos y mediante OCT de segmento anterior. DISCUSIÓN: Los quistes iridociliares son una enfermedad benigna que modifica el perfil del iris, pudiendo dar un aspecto de iris meseta. Esta configuración puede originar una hipertensión ocular de difícil tratamiento. Se han propuesto como tratamiento la iridocistotomía y la iridoplastia periférica, entre otros

CASE REPORT: We present a case of plateau iris and glaucoma due to multiple unilateral iridociliary cysts. The patient was treated with iridotomy Nd: YAG laser and 360° iridoplasty, without achieving pressure control. Phacoemulsification improved the hypertension. Dynamic gonioscopy and OCT of the anterior chamber was also performed before and after treatment. DISCUSSION: Iridociliary cysts are a benign condition that can cause iris plateau configuration, and can produce a difficult to treat ocular hypertension. Cystotomy, peripheral iridoplasty, and other treatments have been proposed

Congenital iris ectropion uveae presenting with glaucoma in infancy.

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.

Presentación de un paciente con enfermedad de Norrie / Presentation of a Patient with Norrie Disease

La enfermedad de Norrie es un raro trastorno genético ligado al cromosoma X que afecta principalmente a los ojos y casi siempre conduce a la ceguera. Además de los síntomas oculares congénitos, algunos pacientes sufren una pérdida progresiva de la audición sobre todo a partir de su segunda década de vida, mientras que otros afectados pueden tener problemas mentales. Los pacientes con la enfermedad de Norrie pueden desarrollar cataratas y leucocoria, junto con otras afecciones de desarrollo en el ojo, como la contracción del globo ocular y el desgaste del iris. Se presentó un niño de cuatro años con ceguera congénita y antecedentes familiares de cuatro tíos y primos de sexo masculino, ciegos desde el nacimiento; su mamá preocupada solicitó asesoramiento genético ante un nuevo embarazo a la cual le brindó toda la información necesaria y se le realizó estudio molecular de sexo(AU)

Norrie disease is a rare genetic disorder that is associated with chromosome X, affecting the eyes and often causes blindness. Besides congenital ocular symptoms, some patients suffer from progressive hearing loss, mainly from its second decade of life, while others may be affected by mental problems. The patients with this diagnosis may develop cataracts and leukocoria, together with other development eye disorders, such as shrinking of the eyeball and the iris wear. This paper presented a four- year- old boy withcongenital blindness and family history of four uncles and male cousins, blind from birth, his mother worried requested genetic consultation, and she needed information to take into consideration for her next pregnancy. The informed everything about the disease and molecular study was performed(AU)

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.