A 27-Year Report From the Central Eye Bank of Iran: A Complete Translation From Farsi

This article is based on a study first reported in Farsi in the Bina Journal of Ophthalmology, titled گزارش عملکرد سه دهه اي بانک چشم جمهوري اسلامي ايران, Volume 24, Issue 2 (Winter 2019) 2019/05/28. Original URL: https://www.sid.ir/fa/journal/ViewPaper.aspx?ID=487896 Purpose: To report the 27-year statistical data from the Central Eye Bank of Iran (CEBI) and its activity. Methods: All CEBI records regarding procured eyes, tissue utilizations, corneal transplants per capita, and indications for keratoplasty from 1991 to 2017 were analyzed. Results: In total, 115,743 whole eyes were donated during the 27-year period. Out of the 114,169 eyes donated between 1994 and 2017, 95,314 eyes were distributed for transplantation, and 95,057 corneas were actually transplanted. The mean annual rate of corneal transplants per capita was 55.10−6 ± 27.10−6. Although penetrating keratoplasty (PKP, 70%) was the most common technique of corneal transplantation during the study period, it exhibited a decreasing trend between 2006 and 2017 (P = 0.048). It was in contrast to Descemet stripping automated endothelial keratoplasty (DSAEK) that demonstrated an increasing trend during the same period (P < 0.001). Keratoconus (KCN, 39.70%) was the most leading indication for keratoplasty over the last three decades followed by bullous keratopathy (BK, 18.5%), corneal scar and opacities (15.7%), and graft failure (GF, 7.5%), with an increasing trend for BK, GF, and KCN. A majority of scleral tissues (83.7%) were utilized for orbital implant protection. Conclusion: An increasing trend in the number of procured eyes was observed over the past 27 years in Iran. The most leading indications for corneal transplantation were KCN and BK. While PKP was the most common keratoplasty technique, DSAEK showed an increasing trend over the last 12 years

Pathogenic Tau Protein Species: Promising Therapeutic Targets for Ocular Neurodegenerative Diseases

Tau is a microtubule-associated protein, which is highly expressed in the central nervous system as well as ocular neurons and stabilizes microtubule structure. It is a phospho-protein being moderately phosphorylated under physiological conditions but its abnormal hyperphosphorylation or some post-phosphorylation modifications would result in a pathogenic condition, microtubule dissociation, and aggregation. The aggregates can induce neuroinflammation and trigger some pathogenic cascades, leading to neurodegeneration. Taking these together, targeting pathogenic tau employing tau immunotherapy may be a promising therapeutic strategy in fighting with cerebral and ocular neurodegenerative disorders

Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients

Purpose: Stargardt disease type 1 (STGD1) is a recessively inherited retinal disorder that can cause severe visual impairment. ABCA4 mutations are the usual cause of STGD1. ABCA4 codes a transporter protein exclusively expressed in retinal photoreceptor cells. The gene contains 50 exons. Mutations are most frequent in exons 3, 6, 12, and 13, and exons 10 and 42 each contain two common variations. We aimed to screen these exons for mutations in Iranian STGD1 patients. Methods: Eighteen STGD1 patients were recruited for genetic analysis. Diagnosis by retina specialists was based on standard criteria, including accumulation of lipofuscin. The six ABCA4 exons were PCR amplified and sequenced by the Sanger method. Results: One or more ABCA4-mutated alleles were identified in 5 of the 18 patients (27.8%). Five different mutations including two splice site (c.1356+1G>A and c.5836-2A>G) and three missense mutations (p.Gly1961Glu, p.Gly1961Arg, and p.Gly550Arg) were found. The p.Gly1961Glu mutation was the only mutation observed in two patients. Conclusion: As ABCA4 mutations in exons 6, 12, 10, and 42 were identified in approximately 25% of the patients studied, these may be appropriate exons for screening projects. As in other populations, STDG1 causative ABCA4 mutations are heterogeneous among Iranian patients, and p.Gly1961Glu may be relatively frequent

Histopathologic Evaluation of Polymer Supports for Pintucci-Type Keratoprostheses: an Animal Study

Purpose: To report histopathological findings for different types of polymers proposed as support for a Pintucci-type keratoprosthesis. Methods: Six polymers, including three types of polyesters (#1-3), one type of polytetrafluoroethylene (PTFE, #4), polyethylene (#5), and expanded polytetrafluoroethylene (ePTFE, #6) were evaluated. Four samples of each material were placed under the orbicularis oculi muscles of 12 rabbits. After five weeks, the samples were removed and evaluated histopathologically. Fibrovascular tissue ingrowths were investigated in terms of tissue penetration depth into the materials (graded as none, mild, moderate, and intense) and fibrovascular ingrowth area at the ultimate level of tissue penetrance. ImageJ software was used to calculate fibrovascular tissue area between the material fibers, and the mean area values were compared between the materials. Results: Polyester materials #1 and #3 demonstrated intense fibrovascular tissue penetration with a large fibrovascular ingrowth area; no overt tissue ingrowth was observed into material #6. The mean area of penetrated fibrovascular tissues was significantly different between materials (P < 0.001). Materials #2, #4, and #5 showed moderate fibrovascular tissue ingrowth and the area of presented fibrovascular tissue at the paracentral parts of material #4 was significantly smaller than that of materials #1 (P = 0.02) and #3 (P = 0.01). Conclusion: Two polyester materials that had relatively large pore sizes demonstrated a deep and large area of fibrovascular ingrowth. Given that material #3 is thicker and more consistent than material #1, the former can be used as the appropriate material for supporting the Pintucci-type keratoprosthesis

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease

A common variant mapping to <i>CACNA1A </i>is associated with susceptibility to exfoliation syndrome

Author manuscript available from PMC http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605818/Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10−11). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: ORA allele = 9.87, P = 2.13 × 10−217; non-Japanese: ORA allele = 0.49, P = 2.35 × 10−31). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease