Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease.

Purpose: To describe two patients with bilateral ptosis, ophthalmoplegia, cataracts and corneal endothelial disease requiring corneal transplantation.

Observations: Histopathological analysis of muscle biopsy samples from both patients identified features consistent with a mitochondrial cytopathy. A single multigenic mitochondrial deoxyribonucleic acid (DNA) deletion was detected in the first patient.

Multiple myeloma manifesting as an ocular salmon patch - a case report.

Multiple myeloma (MM) is the second most prevalent hematologic malignancy after non-Hodgkin lymphoma and is currently considered incurable. Clinical ophthalmic manifestations of MM are rare but at the same time diverse. Ocular surface manifestations of multiple myeloma are uncommon.

Lacrimal Gland Orbital Lobe Cysts Associated With Lymphoid Hyperplasia or Mucosa-Associated Lymphoid Tissue Lymphoma in Patients With Chronic Autoimmune Disease.

Large cysts in the orbital lobe of the lacrimal gland are rare and are associated with Sjögren syndrome and B-cell mucosa-associated lymphoid tissue lymphoma. The authors describe 4 new cases of large orbital lobe lacrimal gland cysts. The first 2 patients, both with Sjögren syndrome, had unilateral cysts associated with chronic inflammation.

Clinicopathological Features of Ocular Adnexal Mantle-Cell Lymphoma in an International Multicenter Cohort.

Importance: To our knowledge, the clinical features of ocular adnexal mantle-cell lymphoma (OA-MCL) have not previously been evaluated in a large multicenter cohort.

Objective: To characterize the clinical features of OA-MCL.

Design, Setting, And Participants: This retrospective multicenter study included patient data collected from January 1, 1980, through December 31, 2015, at 6 eye cancer centers in 4 countries.

Materials in the vitreous during cataract surgery: nature and incidence, with two cases of histological confirmation.

Background: To identify and classify materials in the vitreous observed during phacoemulsification cataract surgery (phaco).

Design: Prospective, consecutive, observational case series at one ophthalmic day surgery in Sydney, Australia.

Participants: A total of 767 consecutive phaco cases.

Conjunctival Lymphoma--An International Multicenter Retrospective Study.

Importance: To date, the clinical features of the various subtypes of conjunctival lymphoma (CL) have not been previously evaluated in a large cohort.

Objective: To characterize subtype-specific clinical features of CL and their effect on patient outcome.

Design, Setting, And Participants: A retrospective multicenter study was performed.

Characterization of the retinal pigment epithelium in Friedreich ataxia.

We assessed structural elements of the retina in individuals with Friedreich ataxia (FRDA) and in mouse models of FRDA, as well as functions of the retinal pigment epithelium (RPE) in FRDA using induced pluripotent stem cells (iPSCs). We analyzed the retina of the FRDA mouse models YG22R and YG8R containing a human FRATAXIN (FXN) transgene by histology. We complemented this work with post-mortem evaluation of eyes from FRDA patients.

Ocular adnexal diffuse large B-cell lymphoma: a multicenter international study.

Importance: The clinical features of diffuse large B-cell lymphoma (DLBCL) subtype of ocular adnexal lymphoma have not previously been evaluated in a large cohort to our knowledge.

Objective: To investigate the clinical features of ocular adnexal DLBCL (OA-DLBCL).

Design, Setting, And Participants: This retrospective international cooperative study involved 6 eye cancer centers.

Successful "medical" orbital decompression with adjunctive rituximab for severe visual loss in IgG4-related orbital inflammatory disease with orbital myositis.

IgG4-related disease (IgG4-RD) is an inflammatory condition of unknown etiology that can cause tumefactive lesions in a number of tissues and organs, including the orbit and ocular adnexa. Diagnostic criteria for IgG4-RD, including pathology and clinical features and pathology, have been recently proposed. This study presents the first case of unilateral acute visual loss secondary to IgG4-related orbital inflammatory disease with orbital myositis that was complicated by severe compressive optic neuropathy.

Progression of choroid plexus papilloma.

Choroid plexus papillomas are rare neoplasms that arise from choroid plexus epithelium. The World Health Organization classification describes three histological grades. Grade I is choroid plexus papilloma, grade II is atypical choroid plexus papilloma and grade III is choroid plexus carcinoma.

Association of the MELAS m.3243A>G mutation with myositis and the superiority of urine over muscle, blood and hair for mutation detection.

A patient with a known family history of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) due to the MT-TL1 m.3243A>G mutation presented with mild myalgia and very minor upper limb proximal muscle weakness. Muscle histology revealed low levels of cytochrome oxidase-negative fibres and non-specific myositis.

A case of biopsy-negative temporal arteritis--diagnostic challenges.

A patient with systemic symptoms but no visual loss was investigated for suspected giant cell arteritis. Initial temporal artery biopsy was reported as negative; however, she returned with visual loss 2 months later, and the diagnosis of giant cell arteritis was confirmed with a subsequent biopsy. In hindsight, signs suggestive of the disease were present in the original biopsy, although the usual diagnostic features were absent.

A post-traumatic nasal epidermoid: an endoscopic approach.

Background: Epidermoid cysts are thought to arise as a result of implantation of epidermal cells into the deeper dermal elements. These cysts have previously been described postsurgery but not after accidental nasal trauma.

Methods: We outline a case of a nasal epidermoid occurring post-blunt nasal trauma and its subsequent excision.

Orbital teratoma: late presentation with normal vision.

Orbital teratoma is a rare, rapidly growing tumour that usually presents with congenital proptosis. Visual outcome is usually poor. A case is described of orbital teratoma presenting in an 18-month-old child as an inferior orbital mass with normal vision and intermittent hypertropia.