Bilateral non-arteritic ischemic optic neuropathy treated with HBO2 therapy: A case report of angiographic and electrodiagnostic findings.

INTRODUCTION: Non-arteritic anterior ischemic optic neuropathy (NAION) is one of the most widespread visually disabling diseases in the middle-aged and elderly population. It typically presents as acute painless unilateral vision loss in patients over 50 years of age. The fellow eye of NAION patients is often sequentially affected. Involvement of the second eye occurs within three years in approximately 45%-50% of patients. Currently there is no generally accepted treatment for NAION but a number of medical and surgical therapies have been proposed. REPORT OF A CASE: This is a case of non-contemporary bilateral non-arteritic anterior ischemic optic neuropathy (NAION) in a 66-year old woman treated with hyperbaric oxygen (HBO2) therapy after ineffective systemic corticosteroid therapy. Visual acuity (VA), visual evoked potentials (VEP) findings, perimetric examination results and angiographic images were recorded and analyzed before and after hyperbaric oxygen treatment. DISCUSSION: After several months from the optic nerve vascular injury, VA, VEP values, perimetric examination results and angiographic images revealed a very important recovery. These results maintained stable during the follow-up at about nine months. HBO2 therapy has been revealed to be a safe and efficacious adjunctive therapy, even after many months after the injury. While this case is promising, double-blind randomized controlled trials will be necessary to prove the efficacy of HBO2 in the treatment of NAION.

Expression of VEGF-A, Otx homeobox and p53 family genes in proliferative vitreoretinopathy.

INTRODUCTION: Proliferative vitreoretinopathy (PVR) is a severe inflammatory complication of retinal detachment. Pathological epiretinal membranes grow on the retina surface leading to contraction, and surgery fails in 5% to 10% of the cases. We evaluated the expression of VEGF-A, Otx1, Otx2, Otx3, and p53 family members from PVR specimens to correlate their role in inducing or preventing the pathology. METHODS: Twelve retinal samples were taken from patients affected by PVR during therapeutic retinectomies in vitreoretinal surgery. Gene expression was evaluated using quantitative real-time reverse transcriptase PCR analysis and immunohistochemistry, using four healthy human retinae as control. RESULT: Controls showed basal expression of all genes. PVR samples showed little or no expression of Otx1 and variable expression of VEGF-A, Otx2, Otx3, p53, and p63 genes. Significant correlation was found among VEGF-A, Otx2, p53, and p63 and between Otx1 and Otx3. CONCLUSIONS: Otx homeobox, p53 family, and VEGF-A genes are expressed in PVR human retina. We individuated two possible pathways (VEGF-A, Otx2, p53, p63 and Otx1 and Otx3) involved in PVR progression that could influence in different manners the course of the pathology. Individuating the genetic pathways of PVR represents a novel approach to PVR therapies.

Ocular alignment and refraction in preterm children at 1 and 6 years old.

PURPOSE: To investigate cycloplegic refraction and ocular alignment in a population of preterm children at 1 and 6 years old. PATIENTS AND METHODS: We included 261 preterm infants with a birth weight ≤1,500 g and a gestational age ≤32 weeks; there were 217 preterm infants (group 1), 28 preterm infants with mild retinopathy of prematurity (ROP) (group 2), and 16 preterm infants affected by severe ROP (group 3). Each patient underwent retinoscopy, ocular alignment assessment, and fundus examination at 1 and 6 years old. RESULTS: The prevalence of refractive errors and ocular alignment abnormalities at 1 year old in groups 2 and 3 compared to group 1 were, respectively (P<0.05): myopia 18% and 40.6% versus 6.9%; hyperopia 28.6% and 22% versus 39.2%; astigmatism 53.4% and 37.4% versus 53.9%; and strabismus 12.5% and 38% versus 5.3%. At 6 years old, they were, respectively (P<0.05): myopia 10.8% and 28.4% versus 7.4%; hyperopia 48.3% and 40.5% versus 62%; astigmatism 40.9% and 31.1% versus 30.6%; and strabismus 25% and 56.25% versus 11.5%. CONCLUSION: At 6 years old, we observed increased rates of both hyperopia and strabismus in all groups compared to 1-year-old children. In preterm children with mild and severe ROP, we recorded increased rates of myopia and strabismus versus preterm children without ROP, and the risk of developing these disorders increased significantly with ROP severity. Astigmatism at 1 year old is not predictive of further development during growth. Patients born prematurely should be informed of the possible risks of ocular alterations due to refractive and ocular component changes.

SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

BACKGROUND: Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes. OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair, blue irides and nystagmus to brown/black hair, brown irides and no nystagmus. The high clinic variety often leads to misdiagnosis. Our aim is to contribute to OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR, OCA2 and TYRP1 gene defects. MATERIALS AND METHODS: After the clinical diagnosis of OCA, all patients received genetic counseling and genetic test. Automatic sequencing of TYR, OCA2, and TYRP1 genes was performed on DNA of 117 albino patients. Multiplex Ligation-dependent Probe Amplification (MLPA) was carried out on TYR and OCA2 genes to increase the mutation rate. SLC45A2 gene sequencing was then executed in the patients with a single mutation in one of the TYR, OCA2, TYRP1 genes and in the patients, which resulted negative at the screening of these genes. RESULTS: SLC45A2 gene analysis was performed in 41 patients and gene alterations were found in 5 patients. Four previously reported SLC45A2 mutations were found: p.G100S, p.W202C, p.A511E and c.986delC, and three novel variants were identified: p.M265L, p.H94D, and c.1156+1G>A. All the alterations have been detected in the group of patients without mutations in the other OCA genes. CONCLUSIONS: Three new variants were identified in OCA4 gene; the analysis allowed the classification of a patient previously misdiagnosed as OA1 because of skin and hair pigmentation presence. The molecular defects in SLC45A2 gene represent the 3.4% in this cohort of Italian patients, similar to other Caucasian populations; our data differ from those previously published by an Italian researcher group, obtained on a smaller cohort of patients.

Clinical analysis of macular edema with new software for SD-OCT imaging.

PURPOSE: To evaluate the clinical efficacy of user-friendly software for the measurement of intraretinal hyporeflective spaces expression of macular edema. METHODS: Fifteen consecutive patients with diabetic retinopathy with clinically significant macular edema were examined using conventional spectral domain optical coherence tomography (OCT). A new composite software application, OCT-measurement analysis tool (OCT-MAT), was developed to automatically process and analyze OCT B-scans by means of image acquisition, filtering, and elaboration, together with hyporeflective area recognition and measurement in µm2. The same macular areas were measured manually, and then compared to the measurements obtained by the automated OCT-MAT software. A statistical t test analysis was applied (statistical significance level at p<0.05). The repeatability and reproducibility coefficient for the automated software was computed using the Wilcoxon matched pair test (5% significance level). RESULTS: In all patients, the software effectively measured the number and extension of intraretinal hyporeflective spaces in µm2. The comparison between mean manual measurements and OCT-MAT measurements (0.478 ± 0.300 × 10(6) µm2 vs 0.471 ± 0.321 × 10(6) µm2) showed correct correspondence (p>0.05). Moreover, the OCT-MAT software showed good repeatability and reproducibility (coefficient below 3%). CONCLUSIONS: OCT-MAT allows the precise measurement of macular edema in terms of the number of empty spaces and their size in all patients. Its daily clinical application might give precise information regarding the evolution of macular edema and the efficacy of therapy.

Combined intravitreal bevacizumab and grid laser photocoagulation for macular edema secondary to branch retinal vein occlusion.

PURPOSE: To evaluate long-term efficacy of intravitreal bevacizumab (IVB) versus combined IVB and macular grid laser photocoagulation for the treatment of macular edema secondary to branch retinal vein occlusion (BRVO). METHODS: In this prospective study, 18 eyes were randomized into 2 groups according to treatment: Group 1 (9 eyes) underwent IVB at baseline, at month 1, and at month 2; Group 2 (9 eyes) underwent same IVB protocol combined with macular grid laser photocoagulation. Macular edema and visual acuity represented the endpoints of the study. IVB reinjections were performed in both groups if recurrent macular edema was diagnosed. Spectral domain optical coherence tomography examination as well as visual acuity examination were performed during follow-up. Statistical evaluation was performed for a matched-pair analysis. RESULTS: In Group 1, median baseline central retinal thickness (CRT) decreased from 420 µm (95% confidence interval 355.6-484.4) to 323 µm (261.44-384.56) at month 12 (p=0.06); median baseline BCVA improved from 0.7 logMAR (0.54-0.86) to 0.4 logMAR (0.29-0.51) at month 12 (p<0.01). In Group 2, baseline CRT decreased from 386 µm (353.91-418.09) to 238 µm (200.58-275.42) at month 12 (p<0.01); median BCVA improved from 0.6 logMAR (0.45-0.75) to 0.2 logMAR (0.12-0.28) at month 12 (p<0.01). A statistically significant difference (p=0.03) was found regarding the median number of injections (Group 1: 4±1.1; Group 2: 3±0.4). CONCLUSIONS: Both treatment modalities appeared effective to control BRVO-induced macular edema. In the combined-treatment Group, we observed a lower number of reinjections during follow-up, suggesting the efficacy of grid laser photocoagulation to reduce the number of intravitreal injections and maintain short- and long-term results of the therapy.