Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.

Purpose: To report the first case of choroidal schwannoma in a patient affected by PTEN hamartoma tumor syndrome (PHTS) and investigate the molecular involvement of the phosphatase and tensin homolog (PTEN) and neurofibromin 2 (NF2) genes in this rare intraocular tumor.

Design: Observational case report.

Participant: A 10-year-old girl diagnosed with PHTS.

Chiasmatic infiltration secondary to late malignant transformation of retinoma.

Purpose: To report the lethal course of malignant transformation of retinoma in an adult.

Methods: Case report. A 40-year-old patient presented with retinoma in his right eye and retinoblastoma in his left eye.

Peripheral exudative hemorrhagic chorioretinopathy: a clinical, angiographic, and histologic study.

Purpose: To describe the clinical and angiographic characteristics of peripheral exudative hemorrhagic chorioretinopathy, an uncommon chorioretinal mass lesion, important for its differential diagnosis to choroidal melanoma, but only rarely described in the literature.

Design: Retrospective, institutional chart review.

Methods: Institutional chart review of 45 patients (56 eyes) diagnosed with peripheral exudative hemorrhagic chorioretinopathy to describe the clinical findings and those obtained by fluorescein angiography (FA) and indocyanine green angiography (ICGA), in addition to a review of the histologic findings of an enucleated eye.

Clinicopathological features of eyelid skin tumors. A retrospective study of 5504 cases and review of literature.

Eyelid tumors are the most common neoplasm in daily ophthalmology practice and encompass a wide variety of benign and malignant tumors. In this retrospective study, we report the clinical and histological features of 5504 eyelid skin tumors diagnosed at the Laboratory of Ophthalmopathology of the Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland, between January 1989 and December 2007. Benign tumors largely predominated over malignant ones, representing 84% of cases in this series, and the 5 most frequent subtypes were squamous cell papilloma (26%), seborrheic keratosis (21%), melanocytic nevus (20%), hidrocystoma (8%), and xanthoma/xanthelasma (6%).

Ultrastructural changes of the internal limiting membrane removed during indocyanine green assisted peeling versus conventional surgery for idiopathic macular epiretinal membrane.

Purpose: To evaluate the histologic features of cellular retinal fragments on the internal limiting membrane (ILM) removed during idiopathic macular epiretinal membrane (MEM) peeling surgery with and without the aid of indocyanine green (ICG) diluted in 5% glucose.

Methods: ILM specimens removed from 88 eyes during idiopathic MEM surgery between 1995 and 2003 were reviewed retrospectively. Histologic analysis focused on the presence and characteristics of retinal fragments on the retinal surface of the ILM.

Utility of a biopsy in suspicious pigmented iris tumors.

Background: In the presence of pigmented iris lesions evocative of malignant melanoma and implying oncological treatment, a foregoing biopsy to exclude a benign lesion may seem a reasonable approach. After examining patient files, the utility of such a diagnostic approach was explored.

Material And Methods: Retrospective, consecutive histopathologic case series of 10 pigmented iris tumor specimens excised since 1993.

Tearing and folding of the retinal internal limiting membrane associated with macular epiretinal membrane.

Purpose: To describe the clinical and histologic features of a particular form of macular epiretinal membrane.

Methods: The charts of all patients operated for macular epiretinal membrane by a single surgeon (E.H.

Conjunctival intraepithelial neoplasia in a patient treated with tacrolimus after liver transplantation.

Purpose: To report a case of conjunctival intraepithelial neoplasia in a patient treated with tacrolimus after liver transplantation for hepatic carcinoma.

Methods: Description of the initial clinical presentation of a patient, tumor management, and 15-month follow-up.

Results: A 70-year-old man presented with a conjunctival intraepithelial neoplasia that developed on the site of a preexisting pterygium.

[Giant nodular posterior scleritis compatible with ocular sarcoidosis simulating choroidal melanoma].

Case Report: A 30-year-old man was referred to our ocular oncology service with a diagnosis of amelanotic choroidal melanoma of the left eye. The following tests were performed: ophthalmoscopy, fluorescein angiography, indocyanine green angiography, ultrasonography, magnetic resonance imaging and biopsy.

Discussion: The diagnosis of giant nodular posterior scleritis, as suggested by ultrasonography, was confirmed by biopsy.

Tumors of the caruncle: a clinicopathologic correlation.

Purpose: To determine the types and incidence of caruncular lesions and to investigate the correlation between clinical and histologic diagnosis.

Design: Retrospective, observational case series.

Methods: Records of patients with a lesion of the caruncle that was excised and submitted to our ocular pathology department between January 1979 and May 2005 were reviewed.

Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy.

Purpose: To investigate the location and tissue-specificity of the pathologic keratoepithelin (KE) deposition in a patient with a keratoepithelinopathy (KEP), TGFBI/BIGH3-related corneal dystrophy.

Methods: An autopsy was performed in a patient with lattice type I corneal dystrophy (LCDI) after authorization was obtained from the family. Mutation screening in TGFBI/BIGH3 was done on the patient several years ago.

Outflow mechanisms after deep sclerectomy with two different designs of collagen implant in an animal model.

Background: To study experimentally two different shapes of collagen implants (CI) used in deep sclerectomy (DS). The ability to promote drainage vessels, outflow mechanisms, success rates, and biodegradability, were studied prospectively in an animal model.

Materials And Methods: DS was performed in 20 eyes of ten rabbits.

Peripapillary choroidal neovascularization associated with melanocytoma of the optic disc: a clinicopathologic case report.

Background: Melanocytoma of the optic disc is a benign melanocytic tumor that rarely causes visual impairment. We report a case of a melanocytoma of the optic disc with a decreased vision related to a peripapillary choroidal neovascular membrane (PCNVM) that was successfully treated by submacular surgery.

Methods: A 45-year-old southern European patient had a melanocytoma of the optic disc in his left eye with vision of 20/100.

Idiopathic cyclitic retrolental membrane in children.

Background: Cyclitic retrolental membranes (CRM) in children are usually associated with chronic uveitis or genetic syndromes. We report two rare cases of idiopathic CRM.

Patients And Methods: Two girls aged 9 and 13 years with visual acuities (VA) of 0.

[Optical coherence tomography in Malattia Leventinese].

Background: Malattia Leventinese (ML) is a genetically homogeneous macular dystrophy with an autosomal dominant mode of inheritance. Ophthalmoscopically it is recognisable by a radial pattern of drusen-like deposits in the macula and by parapapillary deposits, named Forni's verrucosities. The aim of this study is to describe optical coherence tomographic (OCT) findings and to compare them with histological data.

Melanocytomas of the optic disk.

Purpose: To evaluate the various forms of clinical presentation, the potential of growth, the risk of functional loss and the possibility of malignant transformation of optic disk melanocytomas in European patients.

Design: Retrospective observational case control study.

Methods: Evaluation of 37 cases of optic disk melanocytomas identified in the computer files of the ocular oncology unit of Jules Gonin Hospital to determine the clinical presentation of these tumors and the risk of complications.

Surgery for epimacular membrane: impact of retinal internal limiting membrane removal on functional outcome.

Purpose: To examine eyes that underwent vitrectomy and peeling of epimacular membrane and to correlate the functional results with the presence or absence of an internal limiting membrane (ILM) in the histologic specimens.

Methods: Seventy-one eyes underwent vitrectomy and peeling of an epimacular membrane. These membranes were examined with a transmission electron microscope.

Multiple intraorbital neurofibromas: a rare cause of proptosis.

Background: Orbital neurofibromas are rare, accounting for 0.5 to 2.4 % of all orbital tumors.

CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.

Purpose: To identify the genetic defect leading to the congenital nuclear cataract affecting a large five-generation Swiss family.

Methods: Family history and clinical data were recorded. The phenotype was documented by both slit lamp and Scheimpflug photography.

[Histopathological study of corneal lamella excised after complications of myopia treatment with LASIK].

Background: Several complications may occur after Lasik surgery, some of which can lead to corneal scarring and irreversible visual loss. We report such a case, with a clinicopathologic correlation.

History And Signs: A forty-seven-year-old patient with a - 6 D myopia had a Lasik performed with a 160 micron Moria microkeratome.

Massive vascular endothelium growth factor (VEGF) expression in Eales' disease.

Background: Eales' disease is an idiopathic retinal vasculitic and vaso-occlusive process complicated by extensive retinal neovascularisation and vitreous hemorrhages. The great propensity to produce retinal neovessels is one of the particular aspects of the disease that deserves to be further investigated. We report a case of Eales' disease having evolved over more than three decades, with a typical clinical presentation in one eye, while the other eye had to be enucleated because of a terminal neovascular glaucoma, thus allowing pathological examination.

BIGH3 mutation spectrum in corneal dystrophies.

Purpose: To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity.

Methods: Sixty-one index patients with CDs were subjected to phenotypic and genotypic characterization. The corneal phenotypes of all patients were assessed by biomicroscopy and documented by slit lamp photography.

Free conjunctival autologous graft for bleb repair and bleb reduction after trabeculectomy and nonpenetrating filtering surgery.

Purpose: To describe methods and outcomes of excisional revision of a filtering bleb (bleb revision) using free conjunctival autologous graft either for bleb repair or for bleb reduction after trabeculectomy and deep sclerectomy with an implant.

Methods: Retrospective medical records were reviewed for a consecutive non-comparative case series comprising patients who underwent excisional revision of a filtering bleb between May 1998-January 2001. Excisional revision using free conjunctival autologous graft (bleb revision) was performed either for bleb repair, to treat early and late leaks and hypotony with maculopathy, or for bleb reduction, to improve ocular pain, discomfort, burning, foreign body sensation, tearing, and fluctuations of visual acuity.