Reza Iranmanesh

A Novel Mutation and Phenotypes in Phosphodiesterase 6 Deficiency

PURPOSE To develop a systematic approach for the molecular diagnosis of retinitis pigmentosa (RP) and to report new genotype-phenotype correlations for phosphodiesterase 6 (PDE6)-based RP mutations. DESIGN Clinical and molecular studies on a retrospective case series. METHODS We screened 40 unrelated RP patients with an autosomal recessive RP microarray. Individuals with RP caused by PDE6 deficiency underwent genetic segregation and phenotype analysis. RESULTS A disease-associated allele was identified in 32% of patients. Two probands (5%) had PDE6 mutations. The first proband was a compound heterozygote for known R102C and N216S alleles in PDE6A (MIM#180071). Pedigree analysis determined that the N216S variant was benign and direct sequencing discovered a novel, S303C allele. The second proband had a homozygous D600N mutation in the PDE6B gene (MIM#180072). Visual acuities of PDE6-deficient patients ranged from 20/40 to 20/200. Clinical studies showed unusual vitreomacular traction, cystoid macular edema, macular atrophy, and ring hyperfluorescence in PDE6-deficient patients. Such extensive vitreoretinal degeneration is not characteristic of photoreceptor-specific enzyme deficiencies. CONCLUSION High-throughput deoxyribonucleic acid microarray chips can be used in combination with clinical imaging to precisely characterize patients with RP. Identifying the precise mutation in RP may become the standard of care as gene therapy emerges.

Development of Subretinal Fibrosis After Anti-VEGF Treatment in Neovascular Age-Related Macular Degeneration

BACKGROUND AND OBJECTIVE to describe the development or progression of subfoveal fibrosis after anti-vascular endothelial growth factor (VEGF) therapy in the absence of significant subfoveal hemorrhage in neovascular age-related macular degeneration. PATIENTS AND METHODS retrospective case series. RESULTS seven eyes of seven patients with neovascular age-related macular degeneration developed subfoveal fibrosis after anti-VEGF therapy in the absence of significant subfoveal hemorrhage. Five of seven patients experienced vision loss of 0.3 logarithm of the minimum angle of resolution units or greater. CONCLUSION subfoveal fibrosis may develop or progress in neovascular age-related macular degeneration despite the absence of significant subfoveal hemorrhage and treatment with anti-VEGF. Development of anti-fibrotic therapeutics may be beneficial in reducing the incidence of subretinal fibrosis.

Polypoidal choroidal vasculopathy associated with tilted disk syndrome.

PURPOSE To describe a complication of tilted disk syndrome-macular serous retinal detachment caused by development of polypoidal choroidal vasculopathy. METHODS A 65-year-old patient with visual loss and metamorphopsia was evaluated with fluorescein and indocyanine green angiography (ICG) and optical coherence tomography. Subsequently, photodynamic therapy (PDT) with verteporfin was administered. RESULTS Fundus examination showed classic features of tilted disk syndrome as well as a unilateral macular serous detachment secondary to a polypoidal lesion, which was clearly outlined by ICG angiography at the site of a macular lacquer crack. The lesion resolved after PDT. Two years after treatment, no recurrence was observed, and visual acuity was 20/25 without distortion. CONCLUSIONS In this patient with tilted disk syndrome, unilateral polypoidal choroidal vasculopathy was diagnosed by ICG angiography and treated successfully with PDT.

Outcomes of macular hole surgery in patients treated intraoperatively for retinal breaks and/or lattice degeneration.

Purpose: To assess the outcome of macular hole surgery in patients treated intraoperatively for retinal breaks and/or lattice degeneration. Methods: Retrospective review of patients who underwent macular hole surgery from September 1998 to August 2005. Outcomes in eyes that received intraoperative endolaser photocoagulation for retinal breaks and/or lattice degeneration were compared to outcomes in a case-matched control group without retinal breaks or lattice degeneration. Results: A total of 235 consecutive macular hole surgery cases were reviewed. Twenty-four eyes from 24 patients received intraoperative endolaser photocoagulation for retinal breaks and/or lattice degeneration. Macular hole closure occurred in all case and control eyes without any incidence of postoperative retinal detachment. Best-corrected visual acuity improvement of at least three Snellen lines occurred in 100% of case eyes and 92% of control eyes. Conclusion: Outcomes of macular hole surgery in patients with retinal breaks and/or lattice degeneration are similar to outcomes in the overall population when these conditions are treated with intraoperative endolaser photocoagulation. Postoperative retinal detachment does not appear to be correlated with treated retinal tears and greater attention should focus on detecting and managing intraoperative breaks. In our hands, routine use panoramic viewing has replaced indirect ophthalmoscopy, by saving time, and reducing the risk of contamination.

Exudative retinal detachment in castleman disease.

PURPOSE To describe the course of a case of Castleman disease (CD) that presented with visual symptoms and retinal disease. METHODS Clinical examination, fundus photography, and fluorescein and indocyanine green angiography were used to characterize the presence of bilateral exudative retinal detachments in a patient who was subsequently identified as having systemic lymphadenopathy. RESULTS After an extensive medical workup including CT scans, blood testing, and a lymph node and renal biopsy, the patient was diagnosed with CD. Steroids were administered to treat CD. During the course of treatment, the patient developed renal failure, which was successfully treated with plasmapheresis. Four weeks later, the bilateral retinal detachments had resolved without local treatment. CONCLUSION Exudative retinal detachments as manifestations of CD may be observed under systemic treatment for resolution before considering local therapy.

Pascal dynamic contour tonometry versus goldmann applanation tonometry in gas and air-filled eyes after vitrectomy surgery.

Purpose: To compare Pascal Dynamic Contour Tonometry with Goldmann Applanation Tonometry in eyes after vitrectomy surgery with intraocular tamponade of air, silicone oil or perfluorocarbon gas. Methods: Prospective clinical comparative study. Eighty-two consecutive patients undergoing vitrectomy surgery with postoperative air, gas or oil tamponade were recruited. Intraocular pressure was measured with both devices. Results: Mean Goldmann intraocular pressure was 16.6 mmHg (range, 1.0–46.0; SD = 8.80) and the mean Pascal intraocular pressure was 21.70 (range, 4.7–58.5; SD = 9.8) The mean difference between the Pascal and Goldmann readings was 5.09 mmHg (range, −14.7 to +12.9; 95% CI = 4.2–6.0; SD, 4.0; P < 0.001). Mean differences for the different tamponades were 5.09 mmHg for silicone oil, 4.02 mmHg for air, and 5.38 mmHg for perfluorocarbon gas. Conclusion: Pascal dynamic contour tonometry gives readings that are highly correlated with Goldmann applanation tonometry, but on average 5 mmHg higher in eyes after vitrectomy surgery with air, gas or silicone oil tamponades. The difference between Goldmann and Pascal readings does not appear to be altered by the presence of a scleral buckle, or the size of the intraocular gas bubble.

Isolated foveolar detachment in Irvine‐Gass syndrome

Irvine-Gass syndrome, which describes visual loss after cataract surgery as a result of cystoid macular oedema (CMO), typically produces petalloid leakage around the fovea on fluorescein angiography (FA) often associated with late hyperfluorescence of the optic disc.1 Recently, optical coherence tomography (OCT) has confirmed the presence of perifoveal cystic spaces in vivo, consistent with histological specimens with CMO. OCT is increasingly used as a first test, before FA, for diagnosing unexplained visual loss after cataract surgery. Here we report a case of Irvine-Gass syndrome that demonstrated perifoveal leakage and late optic disc staining on FA, whose predominant OCT finding was a localised foveolar detachment. Isolated foveal detachment has been described in diabetic …