Congenital intradiploic arachnoid cyst presenting as painless proptosis.

A 12-year-old girl presented with several years of progressive painless proptosis and orbital fullness. On imaging, she was found to have marked expansion and remodeling centered in the right greater wing of the sphenoid bone with an adjacent middle cranial fossa arachnoid cyst. A clinical diagnosis of intradiploic arachnoid cyst was made. This entity was benign, and other ophthalmic and neurologic signs or symptoms were absent. Our patient was observed without surgical intervention. To our knowledge, this is the first such case reported in a child. Although this cyst has been described in the occipital and frontal bones, this is the first description of occurrence in the sphenoid bone.

Retinoblastoma with autoinfarction presenting as orbital cellulitis.

We describe a case of unilateral retinoblastoma in a 13-month-old boy who presented with signs of orbital cellulitis. Heterochromia, hyphema, and vitreous hemorrhage were observed. Initial computed tomography (CT) imaging failed to reveal the calcified intraocular mass that was later identified on ultrasonography. Histopathology of the enucleated eye revealed diffuse inflammation and tumor necrosis but with absence of malignant retinoblastoma cells. Genetic testing was equivocal. The patient is presumed to have had retinoblastoma that underwent autoinfarction, leading to secondary inflammation. This case highlights the importance of complete ocular evaluation and proper imaging modalities in children presenting with orbital cellulitis.

Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.

OBJECTIVES: To describe new ocular findings associated with oculodentodigital dysplasia (ODDD) and a novel mutation in the connexin 43 transmembrane domain. DESIGN: Oculodentodigital dysplasia is a rare autosomal dominant disease characterized by multiple systemic abnormalities, most commonly of the ocular, nasal, dental, and limb structures. Herein, we studied 2 patients with ODDD. We describe their clinical findings and 2 ocular abnormalities not previously emphasized or reported. RESULTS: Optic nerve and retinal dysplasia was observed in both patients, and ciliary body cysts were observed in 1 patient. Both patients carried isolated in-frame deletion and missense mutations of the GJA1 gene on chromosome 6. CONCLUSIONS: Optic nerve and retinal dysplasia had not been emphasized as ocular manifestations of ODDD. Ciliary body cysts have not previously been reported in association with ODDD. CLINICAL RELEVANCE: Our findings support the potential significance of connexin 43 in the retina, optic nerve, and ciliary body. Retinal and optic nerve dysplasia may be more common than previously appreciated and may be associated with reduced vision. In addition, the ciliary body cysts observed in 1 patient may be secondary to weakened cellular adhesions between ciliary body pigmented and nonpigmented epithelium associated with the in-frame deletion identified in the affected patient. The presence of these cysts may exacerbate glaucoma or complicate its management.

Performance of patients with deficient stereoacuity on the EYESi microsurgical simulator.

PURPOSE: To compare the performance of individuals with deficient stereoacuity with that of individuals with normal stereoacuity on a microsurgical task using the VRMagic EYESi Ophthalmosurgical Simulator (VRmagic Holding AG). DESIGN: Prospective, experimental study at a single institution. METHODS: Subjects with abnormal stereoacuity and controls with normal stereoacuity completed a total of 4 attempts on 2 standardized microsurgical tasks on the EYESi Simulator. Performance was quantified using a 60-point scale, and scores were compared using the Wilcoxon rank-sum test with a significance level of .05 assumed for all tests. RESULTS: Twenty-one subjects with deficient or absent stereoacuity and 21 control subjects with normal stereoacuity were included. The mean age of both groups was 31.5 years (range, 10 to 64 years). Twenty-nine (69%) participants were male. The 2 groups did not differ in age or gender. For each of the 4 module attempts, the Wilcoxon rank-sum test showed significantly better performance of individuals in the control group compared with the study group (P < .001). Additional attempts did not result in improved performance by the study group compared with the control group. No significant associations were observed between performance scores and age or gender. CONCLUSIONS: This study compared the performance of patients with deficient stereoacuity with that of those with normal stereoacuity in microsurgical tasks. Individuals with normal stereoacuity performed better than those with deficient stereoacuity in a simulated microsurgical task. A larger and more complex study may be necessary to validate the findings of the present investigations.

Management of posteriorly dislocated endothelial keratoplasty donor lenticule.

PURPOSE: The purpose of this study was to describe the management of a keratoplasty lenticule adhering to the retina after intraoperative dislocation. METHODS: We describe the posterior dislocation of the donor lenticule during endothelial keratoplasty in a 72-year-old woman with a transscleraly sutured intraocular lens, previous pars plana vitrectomy, and a posteriorly positioned Ahmed glaucoma tube shunt. The lenticule was retrieved through a pars plana approach 2 weeks later, at which time it was tightly adherent to the extramacular retina. Concurrent keratoplasty was performed. RESULTS: Six months after retrieval of the dislocated lenticule with repeat keratoplasty, the retinal examination is stable and the new graft remains attached. CONCLUSION: An iris defect, the absence of capsular support, and a history of previous vitrectomy are all potential risk factors for the intraoperative migration of a keratoplasty lenticule. The surgical view 2 weeks after dislocation was not a limiting factor in the retrieval of the lenticule. However, the tight adherence of the lenticule to the retina required extensive peeling. To avoid a more difficult surgical repair and the potential for scar formation, earlier surgical repair would be preferable, especially if dealing with a macular location.

Astrocytic hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2.

Neurofibromatosis type 2 (NF2) is a heritable syndrome characterized by multifocal proliferation of neural crest-derived cells. The characteristic and diagnostic finding of NF2 is bilateral vestibular nerve schwannomas (acoustic neuromas). In addition to other tumors involving the central and peripheral nervous systems, ophthalmic manifestations, including posterior subcapsular and peripheral cortical cataracts, optic nerve meningiomas, epiretinal membrane, and combined pigment epithelial and retinal hamartomas, are common to NF2. Herein we present an 8-year-old girl with NF2 and astrocytic hamartoma of the optic disc. This patient had been previously diagnosed with NF1 on the basis of multiple CAL macules and suspected subcutaneous neurofibromas. However, neuroimaging revealed bilateral acoustic neuromas, leading to a clinical diagnosis of NF2. Subsequent molecular genetic analysis confirmed the NF2 diagnosis. Multiple CAL macules and astrocytic hamartomas, while associated with NF1, are rarely associated with NF2. Specifically, we are not aware of any reported cases of optic disc astrocytic hamartoma in the setting of NF2.

Verteporfin photodynamic therapy of six eyes with retinal capillary haemangioma.

PURPOSE: Single-centre consecutive interventional case series by retrospective chart review to evaluate the efficacy of verteporfin (Visudyne™) photodynamic therapy (PDT) of retinal capillary haemangioma (RCH). METHODS: Following an initial period of observation, six eyes of five patients with RCH (juxtapapillary 3 and extrapapillary (EP) 3) received 1-3 sessions of standard verteporfin PDT upon the development of progressive vision-threatening complications. Four of the five patients had von Hippel-Lindau (VHL) disease. Follow-up included documentation of best-corrected Snellen visual acuity (BCVA), tumour regression, and presence or absence of subretinal fluid (SRF) and/or lipid exudation as assessed by dilated fundus examination (DFE), fundus photos, and optical coherence tomography (OCT). These parameters were documented at 1 week, 1 month, and 3 months following each PDT session and up to 32 months following the first PDT. RESULTS: All eyes showed favourable response to PDT as defined by tumour regression or stabilization as well as improvement of SRF and lipid exudation. BCVA improved or stabilized in three eyes. Three eyes required PDT retreatment for recurrent SRF. Epiretinal membrane (ERM) worsened in three eyes, requiring vitreoretinal surgery at a median of 6 months following PDT. CONCLUSIONS: PDT is a moderately effective treatment for juxtapapillary and EP RCH. In this series, PDT resulted in tumour regression or stabilization as well as in the improvement of SRF and lipid exudation in all cases. However, stabilization or improvement of visual acuity was observed in only 50 per cent of the cases. The treatment benefits may be limited by pre-existing macular changes and worsening of ERM. A larger prospective study is necessary to validate these findings.

A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion.

PURPOSE: Jacobsen syndrome, also known as 11q deletion syndrome, is a rare condition characterized by multiple anomalies, including developmental delay, cardiac abnormalities, blood dyscrasias, distal limb abnormalities, craniofacial anomalies, and variable ophthalmic manifestations. The syndrome's phenotype is due to a terminal deletion and is usually severely debilitating, frequently associated with fatality. Interstitial deletions, not involving the terminal end, have been associated with a more variable and less severe phenotype. METHODS: Herein, we describe a case of interstitial 11q deletion in a 16 year-old female with associated systemic and craniofacial abnormalities as well as a novel combination of ocular findings, specifically strabismus, high myopia, bilateral cataracts, and bilateral total retinal detachments. RESULTS: This case report highlights the necessity for a detailed ophthalmic examination of patients with both interstitial and terminal deletions of the long arm of chromosome 11.

Sepsis alters the megakaryocyte-platelet transcriptional axis resulting in granzyme B-mediated lymphotoxicity.

RATIONALE: Sepsis-related mortality results in part from immunodeficiency secondary to profound lymphoid apoptosis. The biological mechanisms responsible are not understood. OBJECTIVES: Because recent evidence shows that platelets are involved in microvascular inflammation and that they accumulate in lymphoid microvasculature in sepsis, we hypothesized a direct role for platelets in sepsis-related lymphoid apoptosis. METHODS: We studied megakaryocytes and platelets from a murine-induced sepsis model, with validation in septic children, which showed induction of the cytotoxic serine protease granzyme B. MEASUREMENTS AND MAIN RESULTS: Platelets from septic mice induced marked apoptosis of healthy splenocytes ex vivo. Platelets from septic granzyme B null (-/-) mice showed no lymphotoxicity. CONCLUSIONS: Our findings establish a conceptual advance in sepsis: Septic megakaryocytes produce platelets with acutely altered mRNA profiles, and these platelets mediate lymphotoxicity via granzyme B. Given the contribution of lymphoid apoptosis to sepsis-related mortality, modulation of platelet granzyme B becomes an important new target for investigation and therapy.