Isolated posterior uveal effusion: expanding the spectrum of the uveal effusion syndrome

Scott E Pautler,1 David J Browning2 1Department of Ophthalmology, University of South Florida, Morsani College of Medicine, Tampa, FL, USA; 2Charlotte Ear Eye Nose and Throat Associates, Charlotte, NC, USA Abstract: Uveal effusion syndrome usually causes peripheral chorioretinal detachment, but posterior effusion may present as isolated macular edema with serous macular detachment in the setting of hyperopia and a thickened posterior choroid. Carbonic anhydrase inhibitors may be effective to treat this condition. Keywords: uveal effusion, serous, macular detachment, macular edem

Near-infrared reflectance bull’s eye maculopathy as an early indication of hydroxychloroquine toxicity

Keye L Wong,1 Scott E Pautler,2 David J Browning31Retina Associates of Sarasota, Sarasota, FL, USA; 2Retina Vitreous Associates of Florida, Tampa, FL, USA; 3Charlotte Eye Ear Nose and Throat Associates, Charlotte, NC, USAImportance: In some patients, hydroxychloroquine ocular toxicity may progress even following cessation of therapy. Any leverage the clinician may use to allow earlier detection may avert significant vision loss.Observation: We report three cases suggesting that bull’s eye maculopathy seen on near-infrared reflectance with a confocal scanning laser ophthalmoscope could be an early, objective manifestation of hydroxychloroquine ocular toxicity, and with progression of the disease this near-infrared “bull’s eye” change may disappear.Conclusion and relevance: Alerting clinicians to this observation may allow a larger case series to corroborate the hypothesis that bull’s eye maculopathy detected by near-infrared reflectance may represent an early sign of hydroxychloroquine toxicity.Keywords: confocal, scanning laser ophthalmoscope, multifocal ER

Isolation of new probes in the region of the Wilson disease locus, 13q14.2-->q14.3.

A hybrid panel was used to refine the localizations of eight established markers useful for the diagnosis of Wilson disease. Two of the markers, D13S59 and D13S31, that map very close to the Wilson disease locus (WND) were localized to the region 13q14.2-->q14.3. We report the isolation of seven new probes from this region, using two different approaches. First, 16 clones from a chromosome 13-specific library were mapped using the hybrid panel. Three of the clones mapped to 13q14.2-->q14.3. As a second approach, Alu element-mediated PCR (Alu-PCR) was used to generate clones from a hybrid (ICD) that contains the proximal half of chromosome 13 as the only human component. To select for those that potentially mapped within the region 13q14.2-->q14.3, the clones were screened by differential hybridization using the labeled Alu-PCR products from a hybrid (KSF39) that is similar to ICD but has a deletion in the region 13q14.2-->q14.3. The procedure was successful even though KSF39 contains five additional human chromosomes. Six independent clones were selected. Five of these were found to be nonrepetitive, and four were found to map correctly to 13q14.2-->q14.3 when localized using the hybrid panel