Serena Fragiotta

Genetic Analysis for Two Italian Siblings with Usher Syndrome and Schizophrenia

Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia. The relationship between Usher syndrome and mental disorders, most commonly a “schizophrenia-like” psychosis, is sometimes described in the literature. The etiology of psychiatric expression of Usher syndrome is still unclear. We reported a case of two natural siblings with congenital hypoacusis, retinitis pigmentosa, and psychiatric symptoms. Clinical features and genetic analysis were also reported. We analyzed possible causes to explain the high prevalence of psychiatric manifestations in Usher syndrome: genetic factors, brain damage, and “stress-related” hypothesis.

Diagnostic Aspects and Retinal Imaging in Ocular Toxocariasis: A Case Report from Italy

Toxocara canis is a nematode parasite, commonly found in dogs. This roundworm parasite can invade the eye, causing visual impairment. Toxocara should be considered as a possible causative agent of posterior and diffuse uveitis, and it could be considered in the differential diagnosis of retinoblastoma. Ocular manifestations vary from severe endophthalmitis to silent incidental findings on a routine examination. We report a case of ocular toxocariasis in a 24-year-old Asiatic female that presented to us complaining of visual impairment. Fundoscopic examination revealed a posterior pole granuloma and exudative retinal detachment along with exudates. Presentation, clinical findings, morphological changes, and treatment are discussed. The enzyme-linked immunosorbent assay serology for Toxocara canis was performed, demonstrating the positivity for IgG and IgE. Treatment with the antihelminthic albendazole was initiated. Fluorescein angiography (FA; HRA 2, Heidelberg engineering) and optical coherence tomography (OCT; Spectralis, Heidelberg tomography) were performed, and results have been reported.

Circulating levels of reactive oxygen species in patients with nonproliferative diabetic retinopathy and the influence of antioxidant supplementation: 6-month follow-up

Aims: The aim was to evaluate circulating levels of reactive oxygen species (ROS) and changes in central macular thickness (CMT) in patients with nonproliferative diabetic retinopathy (NPDR) after antioxidant supplementation. Materials and Methods: A total of 68 patients (68 eyes) with NPDR were enrolled. Patients were randomly divided into two groups: Treated with antioxidant supplement (Group A) and untreated control group (Group B). Each tablet, for oral administration, containing pycnogenol 50 mg, Vitamin E 30 mg and coenzyme Q10 20 mg. CMT and free oxygen radical test (FORT) were analyzed at baseline (T0), 3 (T1) and 6 (T2) months in both groups. Results: In Group A, FORT levels and CMT were significantly reduced over time (P < 0.001 for both). In Group B, FORT levels were increased (P < 0.001) and CMT did not vary significantly (P = 0.81) over 3 time points. Conclusions: This is the first study showing the reduction of ROS levels in patients with NPDR thanks to antioxidant therapy. Moreover, our findings have suggested also an influence on retinal thickness.

Fixation stability measurements in patients with neovascular age-related macular degeneration treated with ranibizumab

OBJECTIVE To evaluate which of 2 measuring units (bivariate contour ellipse area [BCEA] vs Fujii) yields more accurate measurements of fixation stability, obtained using the MP-1 device, in patients with neovascular age-related macular degeneration (nAMD) treated with intravitreal injections of ranibizumab, during a 12-month follow-up period. DESIGN Small retrospective, noncomparative, interventional case series. PARTICIPANTS A total of 25 eyes in 25 patients (13 males, 12 females; mean age 71.72 ± 7.98 years). METHODS All participants were older than 50 years, diagnosed with active subfoveal choroidal neovascularization, had best corrected visual acuity (BCVA) values above 20/100, and all lesion types were included. All patients underwent a loading phase with 3 consecutive intravitreal injections of 0.05 mg ranibizumab at monthly intervals. Patients were retreated after the third injection if they exhibited a 100-μm increase in macular thickness or evidence of intraretinal and/or subretinal fluid and new subretinal hemorrhage, observed with spectral-domain optical coherence tomography and fluorescein angiography. The data collected included BCVA and mean macular sensitivities, BCEA, and fixation patterns, performed at baseline and at months 4 and 12, using the MP-1 device. RESULTS The mean total injection number was 5.92 ± 1.18 (minimum 3, maximum 8). Mean BCVA at baseline was 0.55 ± 0.28 logMAR and increased significantly to 0.50 ± 0.33 logMAR. Mean macular sensitivity at baseline was 7.06 ± 4.59 dB and increased significantly to 8.40 ± 4.82. Mean BCEA was 2.19 ± 1.38 deg(2) and decreased significantly to 1.68 ± 1.43 deg(2). Fixation stability patterns, according to the protocol set out by Fujii, did not change significantly during follow-up. CONCLUSIONS Compared with Fujii fixation stability patterns, BCEA correlated better with variations in macular sensitivity and BCVA. BCEA can be added to the traditional parameters used to evaluate the efficacy of intravitreal injections in patients with nAMD.

Predictive Factors For Development Of Neovascular Age-related Macular Degeneration: A Spectral-domain Optical Coherence Tomography Study.

Purpose: To investigate the risk factors predictive for the development of neovascular age-related macular degeneration (NVAMD) by means of spectral-domain optical coherence tomography. Methods: Retrospective study of 73 eyes graded Stage 2 and Stage 3 according to the AMD International Grading System with minimum follow-up of 24 months. Drusenoid pigment epithelial detachment, hyperreflective foci, external limiting membrane, inner ellipsoid band, and retinal pigment epithelium integrity were analyzed at baseline and last follow-up. Binary logistic regression model analyzed significant predictors of neovascular conversion. Results: The discontinuity of external limiting membrane, inner ellipsoid band, and retinal pigment epithelium bands were significantly more prevalent in the NVAMD group at baseline and last follow-up (P < 0.001). Hyperreflective foci represented the single most important predictor of neovascular conversion (Exp [B], 15.15; P = 0.005) as confirmed by Kaplan–Meier curve (P = 0.002). Drusenoid pigment epithelial detachment width was significantly greater in NVAMD group than control subjects at baseline and last follow-up (P < 0.001), and its delta value also resulted a significant neovascular predictor (Exp [B], 0.99; P = 0.04). Conclusion: Hyperreflective foci significantly increase the risk of NVAMD progression. The delta width of drusenoid pigment epithelial detachment also predicts disease progression, integrating the stratification of NVAMD progression risk.

Ocular Manifestations of Ebola Virus Disease: An Ophthalmologist’s Guide to Prevent Infection and Panic

Ebola virus disease (EVD—formerly known as Ebola hemorrhagic fever) is a severe hemorrhagic fever caused by lipid-enveloped, nonsegmented, negative-stranded RNA viruses belonging to the genus Ebolavirus. Case fatality rates may reach up to 76% of infected individuals, making this infection a deadly health problem in the sub-Saharan population. At the moment, there are still no indications on ophthalmological clinical signs and security suggestions for healthcare professionals (doctors and nurses or cooperative persons). This paper provides a short but complete guide to reduce infection risks.

Microperimetric biofeedback in a patient with oculocutaneous albinism

mechanical cross talk, or normal or abnormal extraocularmuscle dynamics. This case report is the first evidence reported to date of the potential applicability and utility of MP in nystagmus. Based on the retinal projection of the fixation pattern, MAIA MP may be useful to quantify the pattern of fixation in nystagmus and to recognize the dominant eye attending to the higher fixation stability value and the comparison of the extent of the ellipse of fixation between eyes. Future studies should evaluate this potential applicability of MP in case series of nystagmus, as well as the agreement with the measurements obtained with video-oculography.

Cystoid Macular Edema Induced by Low Doses of Nicotinic Acid

Cystoid macular edema (CME) is a condition that involves the macula, causing painless vision loss. In this paper, we report a case of niacin-induced bilateral cystoid macular edema (CME) in a middle-age woman taking low dose of niacin (18 mg of nicotinic acid). Optical coherence tomography (OCT) showed retinal thickening and cystoid spaces in both eyes, whereas fluorescein angiography (FA; HRA 2, Heidelberg Engineering) revealed the absence of fluorescein leakage also in later phases. Four weeks after discontinuation of therapy there were a complete disappearance of macular edema at funduscopic examination and an improvement of visual acuity in both eyes. Furthermore OCT showed a normal retinal profile in both eyes. In our opinion considering the wide availability of niacin, medical monitoring and periodical examination should be considered during niacin administration. To our knowledge, this is the first report in the literature that described the very low-dose niacin-induced bilateral niacin maculopathy.

Cilioretinal artery hypoperfusion and its association with paracentral acute middle maculopathy

Background/aims To study the multimodal imaging findings of a large series of eyes with cilioretinal artery obstruction (CILRAO) and describe the systemic associations. Methods Multicentre, retrospective chart review from 12 different retina clinics worldwide of eyes with CILRAO, defined as acute retinal whitening in the distribution of the cilioretinal artery, were identified. The clinical, systemic information and multimodal retinal imaging findings were collected and analysed. Results A total of 53 eyes of 53 patients with CILRAO were included in the study. In 100% of eyes, fundus photography illustrated deep retinal whitening corresponding to the course of the cilioretinal artery. Twenty-eight patients (52.8%) presented with isolated CILRAO (baseline best-corrected visual acuity (BCVA) 20/50, final BCVA 20/25) associated with nocturnal hypotension, 23 patients (43.4%) with CILRAO secondary to central retinal vein occlusion (CRVO) (baseline BCVA 20/40, final BCVA 20/20) and two patients with CILRAO due to biopsy-proven giant cell arteritis (GCA) (baseline BCVA 20/175, final BCVA 20/75). With spectral domain optical coherence tomography (SD-OCT), a hyper-reflective band involving the inner nuclear layer (ie, paracentral acute middle maculopathy or PAMM) was noted in 51 eyes (28/28 eyes with isolated CILRAO and 23/23 eyes with CILRAO+CRVO) corresponding to the retinal whitening. In the two eyes with CILRAO+GCA, SD-OCT illustrated hyper-reflective ischaemia of both the middle and inner retina. Conclusions Isolated CILRAO and CILRAO secondary to CRVO are the result of hypoperfusion or insufficiency, rather than occlusion, of the cilioretinal artery and are associated with PAMM or selective infarction of the the inner nuclear layer. With GCA, there is complete occlusion of the cilioretinal artery producing ischaemia involving both the middle and inner retina associated with worse visual outcomes.

Visual Outcomes and Contrast Sensitivity after Bilateral Implantation of Multifocal Intraocular Lenses with +2.50 or +3.0 Diopter Addition: 12-Month Follow-Up

Abstract Purpose: To evaluate visual acuity and contrast sensitivity after bilateral implantation of AcrySof® IQ ReSTOR® +2.50 D or +3.00 D. Methods: A total of 56 eyes with cataract had bilateral implantation of a multifocal IOL. Inclusion criteria were corneal astigmatism less than 1.0 diopters, axial length between 22.0 and 24.0 mm, and no associated ocular disease. Outcome measures recorded 12 months postoperatively were binocular uncorrected and corrected distance, intermediate and near visual acuities, and contrast sensitivity. Postoperative quality of life and patient satisfaction were assessed with the VF-14 Questionnaire. Results: Twenty months postoperatively, the mean uncorrected and best-corrected distance visual acuities, UCIVA at 60 cm, and contrast sensitivity were similar in all two groups. UCNVA were better in the +3.00 IOL group than in the +2.50 D group. Patients reported good performance for visual tasks. Conclusion: Apodized multifocal IOLs seem a good compromise for non-spectacles life in elderly patients; our study indicates that this solution has a good long-term stability on patients’ visual function.