Pseudo-vitelliform macular detachment and cuticular drusen: Exclusion of 6 candidate genes

Purpose: The etiology and genetic cause of pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD) are unknown; nor is it clear if this phenotype represents a separate disease entity, or is a sub-phenotype of disorders with overlapping clinical presentation. To answer this question, we screened a cohort of patients affected with PVMD/CD for variation in six plausible candidate genes (ABCA4, VMD2, TIMP-3, peripherin/RDS, fibulin 5 (FIBL5) and complement factor H (CFH)) associated with diseases of overlapping phenotypes. Methods: Twenty-eight patients, diagnosed with pseudo-vitelliform macular detachment and cuticular drusen, were evaluated by clinical examination, fundus photography, fluorescein angiography and autofluorescence imaging. DNA from all study subjects were screened for variants in the ABCA4, VMD2, TIMP-3, peripherin/RDS, FIBL5 and CFH genes by a combination of DHPLC, array screening and direct sequencing. Results: All patients presented with cuticular drusen; pseudo-vitelliform detachment was seen in 21 cases, while atrophic changes following regression of the detachment were seen in the remaining 7 subjects. Visual acuity ranged from 20/20 to CF. The screening revealed an I32V mutation in peripherin/RDS in one patient and 2ABCA4 variants, T897I and G1961E, in 2 more patients. No amino acid-altering variants were detected in VMD2, TIMP-3, and FIBL5 genes. The frequency of the CFH Y402H variant in this cohort corresponded to that detected in the general population. Conclusions: Screening of 6 candidate genes detected possibly disease-associated mutations in only 3/28 (10.7%) of patients presenting with PVMD/CD, eliminating these genes as causal for this phenotype. Copyright © Informa Healthcare USA, Inc

High-dose antioxidants for central serous chorioretinopathy; The randomized placebo-controlled study

<p>Abstract</p> <p>Background</p> <p>To determine the efficacy of high-dose antioxidants in the acute stage of central serous chorioretinopathy (CSC).</p> <p>Methods</p> <p>This was a randomized placebo-controlled study. The patients with acute CSC (onset within 6 weeks) were randomized to receive either high-dose antioxidant tablets (study group A) or placebo tablets (control group B) for 3 months or until the complete resolution of subretinal fluid. After 3 months, additional treatment with laser or photodynamic therapy (PDT) was considered if any fluorescein leakage persisted. The outcomes measured were the changes in visual acuity (VA) and central macular thickness (CMT), the number of patients with subretinal fluid at each follow-up time, the number of patients with fluorescein leakage at the end of the 3^rd month and patients who received additional treatments.</p> <p>Results</p> <p>Fifty-one of 58 patients (88%) completed the follow-up criteria. The baseline demographic data were comparable in both groups. At the end of the 3^rd month, the VA and CMT showed no statistical difference between the groups but the patients in group A has less fluorescein leakage and additional treatments than in group B (p = 0.027 and 0.03).</p> <p>Conclusion</p> <p>The high-dose antioxidants for acute CSC did not show any benefits in VA and CMT. However, the drugs might decrease the chance for fluorescein leakage and additional treatments at the end of the 3^rd month.</p

Assessment of a variable frame (polygonal) method to estimate corneal endothelial cell counts after corneal transplantation

&lt;p&gt;&lt;b&gt;Purpose:&lt;/b&gt; To assess the agreement of the ‘polygonal’ variable frame cell count option on a confocal microscope after keratoplasty, with planimetry as the reference method.&lt;/p&gt; &lt;p&gt;&lt;b&gt;Methods:&lt;/b&gt; One hundred clear corneal grafts of 83 patients attending the cornea clinic at Gartnavel General Hospital in Glasgow underwent slit-scanning in vivoconfocal microscopy. Endothelial cell images were assessed with the Nidek Advanced Vision Information System (NAVIS), using the polygonal variable frame and the manual fixed-frame methods. Planimetry was used as the reference. The agreement between methods was assessed by Bland-Altman analysis.&lt;/p&gt; &lt;p&gt;&lt;b&gt;Results:&lt;/b&gt; Planimetry provided a mean (&#177;SD) endothelial cell density (ECD) of 1348&#177;726 cells/mm&lt;sup&gt;2&lt;/sup&gt;, a value that was very similar to that found by the polygonal method (1404&#177;784 cells/mm&lt;sup&gt;2&lt;/sup&gt;). The fixed-frame method provided lower cell counts with a mean ECD of 1026&#177;610 cells/mm&lt;sup&gt;2&lt;/sup&gt; (P&#60;0.001). When compared with the reference ECD, the polygonal method overestimated the ECD only very slightly with a mean difference of 58 cells/mm&lt;sup&gt;2&lt;/sup&gt; (limits of agreement, LoA, of −222 and 339 cells/mm&lt;sup&gt;2&lt;/sup&gt;). Manual counting underestimated the ECD with a mean difference of −320 cells/mm&lt;sup&gt;2&lt;/sup&gt; (LoA −814 and 173 cell/mm&lt;sup&gt;2&lt;/sup&gt;).&lt;/p&gt; &lt;p&gt;&lt;b&gt;Conclusion:&lt;/b&gt; Following keratoplasty, endothelial cell counts with the NAVIS polygonal method are in good agreement with planimetry. The ‘polygonal’ option is proposed as the method of choice for clinical applications with this confocal microscope and a good compromise between reliability and ease of use.&lt;/p&gt