Mira Marcus

Central serous chorioretinopathy in patients receiving systemic corticosteroid therapy.

Central serous chorioretinopathy (CSCR) is characterized by a serous detachment of the neurosensory retina or the retinal pigment epithelium (RPE), or both, at the posterior pole. The etiology and pathogenesis of this disorder are still unknown. Several hypotheses have been proposed, including increased permeability of the choriocapillaris, defects in Bruch’s membrane and a defect in the diffusion-barrier function of the RPE. Among the possible risk factors for CSCR, corticosteroids (endogenous or exogenous) have been implicated in the pathogenesis of the disease.1–8 We present 2 cases in which CSCR developed in patients given oral steroid therapy and resolved after treatment was stopped. The previously reported cases and possible effects of corticosteroids on CSCR pathogenesis are discussed.

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia associated with congenital nystagmus and reduced visual acuity. Genome-wide homozygosity mapping followed by fine mapping defined a 830 Kb disease-associated locus (LOD score 3.5). Whole-exome sequencing identified a single missense mutation in the homozygosity region: c.95T>G, p.(Ile32Ser), in a conserved amino acid within the first predicted transmembrane domain of SLC38A8. The mutation fully segregated with the disease-associated phenotype, demonstrating an ∼10% carrier rate in Mumbai Jews. SLC38A8 encodes a putative sodium-dependent amino-acid/proton antiporter, which we showed to be expressed solely in the eye. Thus, a homozygous SLC38A8 mutation likely underlies isolated foveal hypoplasia.

Attempted bilateral manual enucleation (gouging) during a physical assault

OBJECTIVE To report a rare, severe case of partial traumatic bilateral enucleation and its assessment and management. DESIGN Case report and literature review. METHODS A report of clinical and imaging findings, surgical procedure, medical treatment, and final outcome. RESULTS Complete avulsion of the extraocular muscles and optic nerve resulted in total loss of vision in one eye. Partial visual recovery was achieved by operating on the fellow eye, which was partially avulsed. Both eyes underwent lateral canthotomy in the emergency room. This was followed by exploration, repair of all ruptured extraocular muscles, and anterior chamber tap under general anesthesia. The few previously reported cases of traumatic manual avulsion of the globe are reviewed and discussed in the context of the present case. CONCLUSIONS Partial visual recovery can be achieved after severe orbital and optic nerve trauma. A multidisciplinary approach to the assessment and management of these patients is recommended.

Rhabdomyosarcoma: Invading the Orbit in an Adult

Sites in the head and neck region are among the most frequent locations of rhabdomyosarcoma (RMS) in patients younger than 15 years. However, comparable neoplasms in adults are very uncommon. We present a case report of a 27-year-old man who was diagnosed as having RMS. RMS rarely presents in the head and neck of adults, but should be considered in the differential diagnosis of a small cell neoplasm in patients during the third and fourth decades of life.

BRUCELLA MENINGITIS AND PAPILLEDEMA IN A CHILD

Purpose To report a rare case of Brucella meningitis with papilledema in a child and to discuss the findings of neurobrucellosis in children. Methods A 6-year-old girl was admitted with headache, fever, and vomiting for 1 week. Her family reported intake of raw unpasteurized goats milk in the past. Meningeal signs were strongly positive. Bilateral moderate optic disc edema with flame-shaped hemorrhages was observed. Results The diagnosis of Brucella infection was established by positive blood culture for Brucella species, serum agglutination titer of antibodies to Brucella >1:160, and positive CSF culture. After treatment consisting of trimethoprim-sulfamethoxazole, rifampin, and doxycycline, the patients condition gradually improved. One month later, the papilledema disappeared. One year after presentation, the patient remains free of symptoms. Conclusions Brucella meningitis must be ruled out in symptomatic patients reporting ingestion of raw unpasteurized goats milk. Papilledema is a frequent clinical feature, but irreversible visual impairment is extremely rare.

Late Horner's syndrome following the bite of a black widow spider.

In this paper, we report on the case of a 23-year-old man who presented with a ptosis of the right upper lid and a miosis 1 month after being bitten in his right hand by Latrodectus revivenis. A positive cocaine test confirmed a diagnosis of Horners syndrome.

Sclerosing pseudotumor of the orbit

Idiopathic sclerosing pseudotumor of the orbit is a unique clinico-pathologic entity, similar to retroperitoneal fibrosis, that is characterized by primary, chronic and immunologically mediated fibrosis, poor response to corticosteroid treatment or radiotherapy and frequent visual disability. The clinical and pathologic findings of our case are reviewed.