Reecha Sachdeva

Verteporfin photodynamic therapy of six eyes with retinal capillary haemangioma

Acta Ophthalmol. 2010: 88: e334–e340

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.

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.

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.

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.

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.

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.

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.