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Background: Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus.Case Presentation: We present the case of an otherwise healthy 39-year-old Iranian woman with no family history of ocular disease who suffered with progressive vision loss that had started 2 years prior to presentation. Ocular examination revealed blurry optic nerve head margin and diffuse retinal crystalline deposit in both eyes. Spectral domain optical coherence tomography images showed retinal crystals, located mostly in outer retinal layers, with some areas of outer retinal tubulation and attenuation of outer retinal layers. Crystalline deposits were better visualized on near-infrared images as hyperreflective spots. Fundus autofluorescence images showed hyperautofluorescence areas on optic nerve head consistent with optic nerve head drusen and large hypoautofluorescence areas in posterior retina consistent with retinal pigment epithelium atrophy. Cystinosis was ruled out by blood testing.Conclusion: Bietti crystalline dystrophy may be associated with optic nerve head drusen. [ABSTRACT FROM AUTHOR]

Purpose: The PhNR is driven by retinal ganglion cells (RGCs). Therefore, the function of RGCs could be objectively evaluated by analyzing the PhNR. The aim of this article is to determine the effect of central retinal vein occlusion (CRVO) on PhNR and RGCs performances.Methods: Seventeen patients with CRVO were included. Full-field photopic ERGs, including PhNR, were recorded and compared with the fellow normal eyes. ERG signals were analyzed based on the standard time-domain analyses of the PhNR as well as a continuous wavelet transform (CWT) to extract time-frequency components that correspond to the PhNR using MATLAB. We obtained the main frequencies and their occurrence time from CWT.Results: All a-wave, b-wave, and PhNR amplitudes of CRVO eyes showed a significant reduction compared to those of the fellow eyes (P < .01, P < .001, and P < .001, respectively). The peak times of a-wave, b-wave, and PhNR were increased significantly in the CRVO eyes (P = .04, P = .04, and P = .003, respectively). The dominant f3 frequency, which corresponds to the PhNR in CRVO patients, showed a more significant decrease (P < .001) compared to other dominant frequencies (f0, f1, and f2). The occurrence time of f3 (t3) was significantly higher in the CRVO eyes (P < .001). Time-domain of the PhNR was also affected in CRVO patients (P < .001).Conclusion: CWT allows quantifications of ERG responses, especially for PhNR. The PhNR was severely affected in CRVO eyes implicating loss of RGCs. CWT might demonstrate the severity of CRVO more precisely and identify diagnostically significant changes of ERG waveforms that are not resolved when the analysis is only limited to the time-domain measurements. [ABSTRACT FROM AUTHOR]

Background: The management of retinoblastoma remains a challenge to the multidisciplinary team, particularly as treatment affects not only visual outcomes, but also ocular retention and morbidity. Management of retinoblastoma has evolved over the past two decades. Objectives: To report the result of intra-ophthalmic artery chemotherapy (IAC) for the treatment of refractory and advanced retinoblastoma tumors. Patients and Methods: All patients who had failed to respond adequately to previous treatments and six naive patients with advanced retinoblastoma, receiving IAC between 2009 and 2012, were included in this institutional interventional case series. The patients received 1-2 treatments of IAC given 4-8 weeks apart. Complete response was defined as regressed tumor and complete disappearance of seeding clinically and partial response was defined as partial regression of the tumor with live parts of the tumor and/or lessening of seeds, but not complete disappearance of them clinically. Results: A total of 24 eyes of 24 patients were treated with IAC during the study period. The mean age at the time of IAC was 38.9 months (14-120 months), and the mean follow-up was 16.8 months (3-36 months) after IAC. Tumor control was achieved in 14 eyes (58.3%). Type 3 (combined fleshy and calcified remnants) was the most common type of regression (37.5%). Complications included vitreous hemorrhage in nine eyes (37.5%), arterial occlusion in two (8.3%), cyclitic membrane possibly secondary to ischemia and tractional retinal detachment in one patient (4.2%), chorioretinal atrophy in three (12.5%) patients, and neovascular glaucoma in one eye (4.2%). In eight (33.3%) patients, no complication happened. Globe salvage was achieved in 62.5% of the cases. The success rate for naive patients was 84%. Sixty-seven percent of the cases received transpupillary thermotherapyand cryotherapy before IAC. Conclusions: Intra-ophthalmic artery melphalan is an effective treatment for advanced cases of retinoblastoma, with a reasonable level of success. In the short follow up period of this study, it appears that the primary cases showed better results in the control of tumor. [ABSTRACT FROM AUTHOR]

Background and Objectives: Standard Full-field Electroretinography (SFE) is an invaluable procedure for evaluating the function of the retinal photoreceptors, pigmented epithelium and Müller cells. It is consists of scotopic, photopic, maximal response, oscillatory potential and 30 Hz flicker responses. Standardization of the results is a crucial step in interpreting the results efficiently and facilitates the process of the treatment. The aim of this study was to determine the normative data base of SFE method in Tabriz, IRAN. Materials and Methods: Eighty-five healthy individuals (with the age of 1st to 7th decades) who were resident in Tabriz city, were randomly selected and SFE was performed with DTL electrodes according to the ISCEV instruction. Results: The mean ages of male and female participants were 35.6±19.7 and 35.3±14.3 years, respectively (P=0.95). Conclusion: The standardization of the results of electroretinography is mandatory in any ophthalmology center to diagnose the relevant diseases and manage them properly. [ABSTRACT FROM AUTHOR]

Background: Bardet-Biedl syndrome is an autosomal recessive disease characterized by rod-cone dystrophy, postaxial polydactyly, kidney defects, obesity, mental retardation and hypogonadism. Here, we report different genotypes in two Bardet-Biedl syndrome affected sisters with a different clinical phenotype regarding severity., Materials and Methods: The proband of the family was examined by Next Generation Sequencing (NGS) using clinical exome and filtering by syndromic and non-syndromic genes associated with retinal dystrophies., Results: Targeted NGS revealed two novel variants in the MKKS and CEP290 genes in homozygosis state in the proband. Segregation analysis revealed the presence of the same MKKS homozygous variant in her younger affected sister but not the CEP290 variant. Both sisters presented different clinical manifestation, at different ages, with a more severe renal and retinal defect in the case of the sister carrying mutations in both genes. Another unaffected sister showed only homozygosity for the CEP290 variant, thus supporting the non-pathogenic role of this mutation in BBS phenotype., Conclusions: In this study, NGS proved to be a powerful and efficient sequencing method to identify causal variants in different genes. However, it remarks the importance of the segregation analysis and clinical information to establish the pathogenicity of new variants. The two affected sisters present different genotypes and clinical manifestation, suggesting that the novel CEP290 variant could be acting as a modifier, making the phenotype more severe in the sister homozygote for MKKS and CEP290 genes. On the other hand, the difference in the age of both sisters highlight the important role of monitoring disease progression also to confirm the modifier role of genetic variants., (Copyright © 2021 Elsevier Ltd. All rights reserved.)