Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65.

Leber Congenital Amaurosis 2 is an early onset retinal dystrophy that occurs due to mutation in RPE65 gene. Here, we report the generation of two patient specific induced pluripotent stem cell lines harboring nonsense mutations in exon 7 (c.646A > T) and exon 9 (c.992G > A) of RPE65 gene, respectively, which leads to premature translational termination and formation of defective protein. These lines were generated by the reprogramming of human dermal fibroblast cells using integration-free, episomal constructs expressing stemness genes. The stable lines maintained a normal karyotype, expressed the key stemness factors, underwent trilineage differentiation, and maintained their genetic identity and genomic integrity.

[Deep periocular trauma with affection of the lacrimal ducts during Caesarean section]. / Tiefes periokuläres Trauma mit Tränenwegsbeteiligung durch Kaiserschnittentbindung.

Periocular injuries during a caesarean section are extremely rare. The case report of a five hour old newborn addresses the trauma management concerning diagnostics, therapy, and post-operative care of a deep periocular soft tissue injury. The pattern of injury consisted of full thickness wounds of the medial and lateral lid margins, opening of the superior conjunctival fornix, and penetration of Tenon's capsule. The reconstruction was performed layer by layer while an autostable monocanaliculonasal lacrimal intubation was inserted.

Buried Probe in Complex Congenital Nasolacrimal Duct Obstructions: Clinical Profiles and Outcomes.

PURPOSE: To report the clinical profiles and outcomes of buried probe variant of complex congenital nasolacrimal duct obstruction (CNLDO). METHODS: Retrospective chart review of all patients endoscopically diagnosed as a buried probe variant of complex CNLDO, over a 3.5 year period from a single surgeon's (MJA) database were included in the study. A detailed lacrimal system evaluation was performed and intraoperative findings including nasal endoscopy were documented. A minimum follow up of 3 months following the final intervention was considered for analysis. Anatomical and functional success of the interventions was assessed at the final follow up. RESULTS: Twenty-two eyes of 21 patients with buried probes were studied. The mean age at presentations was 41.2 months. Epiphora and discharge were the commonest presenting symptoms noted in 77.2% (17/22). Associated lacrimal anomalies include punctal agenesis, incomplete punctal canalization and atonic lacrimal sac. All patients underwent irrigation and probing under nasal endoscopic guidance. Further, 3 patients underwent endoscopic dacryocystorhinostomy for persistent CNLDO. At a mean follow up of 4.9 months, the final anatomical and functional successes were noted in 90.9% and 81.8%, respectively. CONCLUSIONS: Buried probe is a variant of complex CNLDO, noted more commonly in older children. Endoscopic guidance is crucial for its diagnosis and satisfactory outcomes.

Canaliculops Associated With Punctal Agenesis: A Clinicopathological Correlation and Review of Literature.

Canaliculops or canaliculocele is a rare form of noninflammatory and noninfectious canalicular ectasia. To the best of the authors' knowledge, so far only 5 such cases have been described in the literature. Typical clinical and characteristic immunohistochemical features aid in the diagnosis. Although rare, it should be kept in the differential diagnosis of cystic lesions in the medial canthus area. The authors report the sixth such case, but the first case to show an association with punctal agenesis. Addition of more such cases to literature will help unravel the etiopathogenesis of this intriguing canalicular disorder.

Recurrent orbital paraganglioma: a clinicopathological correlation of an extremely rare tumor.

Orbital paraganglioma is an extremely rare clinical entity with fewer than 40 cases reported in the literature. A well-documented case of a recurrent orbital paraganglioma is reported and its clinical, radiologic, histopathologic, and immunohistochemical features are discussed.