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Mutations in the gene for guanylate cyclase-activating protein-1 (GCAP1) (GUCA1A) have been associated with autosomal dominant cone dystrophy (COD3). In the present study, a severe disease phenotype in a large white family was initially shown to map to chromosome 6p21.1, the location of GUCA1A. Subsequent single-stranded conformation polymorphism analysis(More)
OBJECTIVES To identify the disease-causing mutation in a large family segregating dominantly inherited butterfly-shaped pattern dystrophy (BPD) and to describe the microscopic pathological changes observed in a member of this family. METHODS Seventeen individuals at risk for dominantly inherited BPD in a family were examined and blood samples obtained.(More)
To demonstrate the effect of apraclonidine on anisocoria and ptosis in Horner syndrome, one drop of 0.5% apraclonidine was instilled in both eyes of 3 patients who presented with acute Horner syndrome, and the effect on ptosis and anisocoria was documented. As reported in the literature, one drop of 0.5% apraclonidine reverses the anisocoria of Horner(More)
Corneal deposits in association with paraproteinemias have been well described in the ophthalmic literature. Recent reports in the renal literature have described immunotactoid deposition associated with glomerulopathy-organized microtubular deposits of IgGkappa that measured 32-50 nm in diameter on renal biopsies. We present a case of corneal immunotactoid(More)
PURPOSE To identify additional mutations in the ABCR gene and describe the clinical features of four affected siblings with autosomal recessive Stargardt disease. METHODS A cohort of eight siblings was identified for study. Four of these individuals were diagnosed with Stargardt disease based on clinical evaluation and fluorescein angiography. Blood(More)
PURPOSE To present a subtle case of iridocorneal endothelial (ICE) syndrome and discuss the utility of in vivo confocal microscopy in the evaluation of this disorder. Previous reports of the confocal microscopic features of ICE syndrome are reviewed. METHODS A 32-year-old man presented with decreased vision and halos. Slit-lamp biomicroscopy and in vivo(More)
Cetuximab is a monoclonal antibody that binds to the epidermal growth factor receptor (EGFR) of cancer cells expressing EGFR and prevents dimerization and downstream cell signaling pathways. It has been shown to prolong survival in patients with metastatic colorectal cancer. Cutaneous toxicity is relatively common because of the inhibition of EGFR of normal(More)
A 28-year-old man with long-standing right proptosis presented with an extensive multilobulated partially cystic orbital mass thought to be a lymphangioma. Because of concern that excision or debulking of the lesion was likely to be complicated by excessive bleeding, the lesion was injected with a mixture of ethiodized oil (Ethiodol) and cyanoacrylate glue(More)
A 52-year-old man developed a unilateral Horner syndrome following a skiing accident. He was otherwise asymptomatic. Neuroimaging with magnetic resonance revealed bilateral internal carotid artery dissections, and he was urgently treated with anticoagulation. Immediate neuroimaging should be performed in any patient with Horner syndrome following trauma,(More)