Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.

BACKGROUND/OBJECTIVES: REALITY is an international observational retrospective registry of LHON patients evaluating the visual course and outcome in Leber hereditary optic neuropathy (LHON). SUBJECTS/METHODS: Demographics and visual function data were collected from medical charts of LHON patients with visual loss. The study was conducted in 11 study centres in the United States of America and Europe. The collection period extended from the presymptomatic stage to at least more than one year after onset of vision loss (chronic stage). A Locally Weighted Scatterplot Smoothing (LOWESS) local regression model was used to analyse the evolution of best-corrected visual acuity (BCVA) over time. RESULTS: 44 LHON patients were included; 27 (61%) carried the m.11778G>A ND4 mutation, 8 (18%) carried the m.3460G>A ND1 mutation, and 9 (20%) carried the m.14484T>C ND6 mutation. Fourteen (32%) patients were under 18 years old at onset of vision loss and 5 (11%) were below the age of 12. The average duration of follow-up was 32.5 months after onset of symptoms. At the last observed measure, mean BCVA was 1.46 LogMAR in ND4 patients, 1.52 LogMAR in ND1 patients, and 0.97 LogMAR in ND6 patients. The worst visual outcomes were reported in ND4 patients aged at least 15 years old at onset, with a mean BCVA of 1.55 LogMAR and no tendency for spontaneous recovery. The LOESS modelling curve depicted a severe and permanent deterioration of BCVA. CONCLUSIONS: Amongst LHON patients with the three primary mtDNA mutations, adult patients with the m.11778G>A ND4 mutation had the worst visual outcomes, consistent with prior reports.

Welcoming teleretinography into diabetes integrated care.

Integrated Care (IC) is a perfect fit for people with diabetes. Fundus examination (FE) is a disease marker for diabetologists and identifies potentially blinding complications (Diabetic Retinopathy, DR). In our Diabetes Clinic (DC) in Pescara, Italy, FE is possibly provided with telemedicine in same day as other exams, avoiding it to be a standalone clinical one; images taken with a retinal digital camera are graded by a remote ophthalmologist within a shared Electronic Health Record (EHR), immediately readable by other stakeholders; a dedicated care path to the Eye Clinic, University of Chieti-Pescara is provided for urgent cases. Personnel's worktime shortening allows gaining time for ophthalmologists' eye examinations in outpatient settings and other stakeholders' work in the DC. The need for a DR digital screening system is growing worldwide: our experience confirms the ease of implementation, and the advantage of sharing clinical data with all stakeholders when working within an EHR, aiming to optimize an IC effective system.

Widefield OCT angiography and ultra-widefield multimodal imaging of Susac syndrome.

The aim is to present the changes in ultra-widefield and widefield multimodal imaging, including optical coherence tomography angiography of a 33-year-old woman diagnosed with Susac syndrome, over 1 year of follow-up. Fundus examination and multimodal imaging revealed bilateral arterial occlusion of multiple vascular branches with retinal ischemia. Over 1 year follow-up, best-corrected visual acuity improved while retinal ischemia gradually resolved. Widefield optical coherence tomography angiography showed reperfusion of macular large vessels, but not of the small capillaries. Despite anatomical improvement, functional defects of the visual field persisted. In conclusion, widefield and ultra-widefield imaging provided high-resolution details of the central and peripheral damages in Susac syndrome.

MYD88 L265P MUTATION DETECTION IN THE AQUEOUS HUMOR OF PATIENTS WITH VITREORETINAL LYMPHOMA.

PURPOSE: To detect the presence of MYD88 L265P mutation in the aqueous humor of patients with cytologically proven vitreoretinal lymphoma. METHODS: Eight consecutive patients with bilateral vitreoretinal lymphoma (16 eyes) were prospectively evaluated. Genomic DNA was extracted from aqueous samples after paracentesis and vitreous humor samples after diagnostic vitrectomy. MYD88 codon 265 mutation was investigated by both amplification-refractory mutation system polymerase chain reaction approach and pyrosequencing assay in the aqueous humor of all patients and in the vitreous of 6 patients. A control group of 8 age-matched patients with established diagnosis of noninfectious uveitis was also tested for the presence of MYD88 L265P mutation in the aqueous humor. RESULTS: Eight patients (three men, five women) with mean age of 69.5 years (range 50-85 years) were considered. All the patients tested for MYD88 L265P in the vitreous (six) were positive, and this result was consistent with cytological examination in all samples but one. The MYD88 L265P mutation was found in the aqueous of 6 patients (75%), and in 3 of them, the mutation was present in both eyes. Results of MYD88 L265P mutation in aqueous and vitreous sample were consistent in 7 of the 8 eyes with available samples. The aqueous humor of the noninfectious uveitis control group was negative for the detection of MYD88 L265P mutation. CONCLUSION: MYD88 mutation was detected in the aqueous humor of 75% of patients with cytologically proven vitreoretinal lymphoma. This technique may be considered as an additional diagnostic tool in the detection of the disease.

Delayed suprachoroidal hemorrhage following Nd:YAG laser goniopuncture: a case report.

PURPOSE: To report a delayed suprachoroidal hemorrhage following Nd:YAG laser goniopuncture (LGP) in an eye with a previous deep sclerectomy. METHODS: Case report. RESULTS: A 75-year-old woman with advanced primary open-angle glaucoma underwent LGP due to unsatisfactory intraocular pressure (IOP) in her left eye, 1 month after undergoing deep sclerectomy in the same eye. Delayed suprachoroidal hemorrhage occurred the day after LGP execution. CONCLUSIONS: Nd:YAG laser goniopuncture is often performed to enhance IOP control following deep sclerectomy. Although LGP is usually effective and safe, severe complications, such as delayed suprachoroidal hemorrhage, may occur after its execution.

Posterior polymorphous corneal dystrophy concomitant to large colloid drusen.

PURPOSE: To describe the previously unreported concomitance of 2 uncommon ocular conditions: posterior polymorphous corneal dystrophy (PPCD) and large colloid drusen (LCD). METHODS: A 45-year-old woman underwent a complete ophthalmologic examination with slit-lamp biomicroscopy and blue fundus autofluorescence with spectral-domain optical coherence tomography, as well as complete systemic examination and renal function investigation. RESULTS: On slit-lamp biomicroscopy, a corneal lesion located at Descemet membrane was observed in the right eye. The clinical features of deep posterior stromal-endothelial linear bands with vesicles and irregular opacities of posterior corneal surface were consistent with the diagnosis of PPCD. Fundus biomicroscopy and blue fundus autofluorescence showed LCD. DISCUSSIONS: We report the unusual coexistence of PPCD and LCD in a young, healthy subject. Posterior polymorphous corneal dystrophy and LCD share morphologic similarities and dysfunctions of collagen architecture in the basement membrane layer, which suggests a possible common pathogenic pathway.

Treatment of dry age-related macular degeneration.

A number of different approaches are under development for treating nonexudative manifestations of age-related macular degeneration (AMD). Some interventions target specific pathways that are believed to play a role in AMD pathogenesis, e.g. oxidative damage, lipofuscin accumulation, chronic inflammation (including complement activation), extracellular matrix changes (e.g. ß-amyloid accumulation), impaired choroidal blood flow, and apoptosis. In principle, these therapies can be combined ('combination therapy'), which may lead to synergistic effects that include better visual outcome, less likelihood for 'escape' (i.e. drug resistance), and less frequent treatment.

Subthreshold laser treatment versus threshold laser treatment for symptomatic retinal arterial macroaneurysm.

PURPOSE: This study was designed to compare the effects of subthreshold laser treatment (STLT) with threshold laser treatment (TLT) in patients affected by symptomatic retinal arterial macroaneurism (RAM). METHODS: Patients affected by symptomatic RAM, characterized by exudative manifestations involving the fovea and best-corrected visual acuity (BCVA) worse than 20/80 Snellen equivalent, were recruited. Patients were randomly assigned to STLT or TLT and regularly followed up for 12 months. Primary outcome measures were changes in central point thickness (CPT) at the end of the follow-up. Secondary outcome measures were changes in mean BCVA at the end of the follow-up and identification of postlaser alterations. RESULTS: In this single center, randomized, clinical trial, 12 patients were randomized to STLT and 13 to TLT. CPT in STLT was 332 µm at baseline and changed to 249 µm at the 12-month examination. CPT in TLT was 341 µm and reduced to 226 µm at the end of the follow-up. BCVA in STLT changed from 0.72 logMAR to 0.28 logMAR. BCVA in TLT changed from 0.76 logMAR to 0.26 logMAR. The statistical analyses revealed a significant difference comparing the baseline values for both CPT and BCVA in each subgroup from the third month (P < 0.001). No difference was found comparing the two subgroups at any point in time. Three eyes (23%) treated with TLT developed an epiretinal membrane with subjective metamorphopsia. CONCLUSIONS: This pilot randomized clinical trial shows that both STLT and TLT can achieve similar improvements in BCVA and CPT. The lower laser energy delivered by STLT can reduce the complication rate.

Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation.

PURPOSE: To describe a case of ABCA4 gene mutation (G1961E) associated with bilateral choroidal neovascularization (CNV) treated with intravitreal ranibizumab injections. METHODS: A 52-year-old man with bilateral CNV associated with ABCA4 gene mutation underwent complete ophthalmologic examination over a 30-month follow-up and was treated with intravitreal ranibizumab injections on an as-needed basis. RESULTS: Baseline best-corrected visual acuity (BCVA) was 20/32 in the right eye (RE) and 20/63 in the left eye (LE). Two small CNVs with juxtafoveal location were detectable in the RE, whereas a single subfoveal CNV was visible in the LE. Overall, 6 and 9 intravitreal ranibizumab injections were administered in RE and LE, respectively, during the 30-month follow-up. At the end of the follow-up, BCVA was 20/100 in the RE and 20/200 in the LE. CONCLUSIONS: This case report reveals that ABCA4 gene mutation may be complicated by multiple and bilateral CNVs. Intravitreal injection of ranibizumab can achieve temporary CNV stabilization, but cannot guarantee complete quiescence over a long-term follow-up. Other therapeutic approaches could be necessary to accomplish visual acuity preservation.

Diabetic macular edema: correlations with available diabetes therapies--evidence across a qualitative review of published literature from MEDLINE and EMBASE.

Diabetic macular edema (DME) is the leading cause of visual loss and legal blindness in people with diabetes mellitus. The pathogenesis of DME is complex and multifactorial, and involves both local and systemic risk factors that may alter the blood-retina barrier and allow leakage of protein and fluid into the macula. Recently, in addition to well known risk factors, the use of thiazolidinediones (glitazones) has been related to the development and worsening of DME. This review is based on available literature derived from EMBASE and MEDLINE, from 1950 to May 2010, and focuses on the potential correlations between DME and current available therapies for type 1 and 2 diabetes. This review reveals that the current literature, with the potential exception of glitazones, is not sufficient for a definite statement on the association between DME and currently available diabetic therapies. In fact, among antidiabetic agents, the class of glitazones appears the only one to be potentially associated with DME. Furthermore, adequately powered, prospective studies are warranted to evaluate the exact causal association between glitazones and DME and to exclude the role of other confounding factors potentially able to induce or exacerbate macular edema. Improvement of the quality and reporting in postmarketing surveillance and the use of the 'dechallenge and rechallenge' approach in case of suspicious cause/effect drug relationship of DME are highly encouraged.