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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#1
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29140732/a-rare-form-of-ankyloblepharon-filiforme-adnatum-associated-with-the-hay-wells-syndrome-and-a-c-1709t-c-mutation-on-the-tp63-gene
#2
Michal Koubek, Kristýna Strakošová, Juraj Timkovič, Dagmar Grečmalová, Aneta Orlíková, Hana Burčková, Hana Wiedermannová, Petr Mašek
INTRODUCTION: Ankyloblepharon filiforme adnatum associated with Hay-Wells syndrome is a rare congenital disease caused by mutations in TP63 gene on the 3q27 chromosome. Here, we report a case of a new-born suffering from this syndrome in whom we detected a mutation c.1709T>C not previously included in the Ensemble database. CASE DESCRIPTION: A girl delivered in the 34th week of gestation from a physiological pregnancy was born with extensive burn-like skin defects, ankyloblepharon filiforme adnatum, palate cleft, onychodystrophy of all limbs and syndactyly of toes...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29135315/risk-allele-of-the-fzd4-gene-for-familial-exudative-vitreoretinopathy
#3
Hiroyuki Kondo, Eiichi Uchio, Shunji Kusaka, Koichiro Higasa
No abstract text is available yet for this article.
November 14, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29116865/ophthalmic-abnormalities-of-pai-syndrome-a-case-report-and-review-of-literature
#4
Emily Li, Jennifer A Galvin
No abstract text is available yet for this article.
November 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29111861/compound-heterozygous-variants-in-ift140-as-a-cause-of-nonsyndromic-retinitis-pigmentosa
#5
Tisiana Low, Anastassios Kostakis, Meena Balasubramanian
No abstract text is available yet for this article.
November 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29111846/investigation-of-cav1-cav2-rs4236601-and-cdkn2b-as1-rs2157719-in-primary-open-angle-glaucoma-patients-from-brazil
#6
Hugo Freire Nunes, Galina Ananina, Vital Paulino Costa, Nilson Ivo Tonin Zanchin, José Paulo Cabral de Vasconcellos, Mônica Barbosa de Melo
Large-scale genome-wide association studies have identified several susceptibility variants associated with the risk of primary open-angle glaucoma (POAG), among which rs4236601 (CAV1/CAV2) at chromosome 7q31 and rs2157719 at chromosome 9p21 (CDKN2B-AS1). The purpose of this study was to investigate whether these variants contribute to the incidence of POAG in a sample of the Brazilian Southeastern population and to determine the best-fitted genetic model for these single nucleotide polymorphisms (SNPs). A case-control study with 557 individuals, 310 with POAG, and 247 controls was conducted through PCR and direct sequencing...
November 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29111844/a-new-perspective-on-the-genetics-of-keratoconus-why-have-we-not-been-more-successful
#7
Hanne Valgaeren, Carina Koppen, Guy Van Camp
Twin studies and family studies suggest an important genetic basis for keratoconus (KC). Involvement and association of several genes with the disease has been reported. Additionally, genes associated with central corneal thickness (CCT) and corneal curvature (CC) via genome-wide association studies (GWAS), also potentially underlie KC. Although a long list of genes has been reported for KC, the evidence for a pathogenic role for most genes remains limited. Furthermore, if the involvement of the reported genes in KC development can be proven, they only account for a limited number of patients...
November 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29099668/successful-conservative-treatment-of-massive-choroidal-relapse-in-2-retinoblastoma-patients-monitored-by-ultrasound-biomicroscopy-and-or-spectral-domain-optic-coherence-tomography
#8
Christina Stathopoulos, Marie-Claire Gaillard, Francesco Puccinelli, Philippe Maeder, Doris Hadjistilianou, Maja Beck-Popovic, Francis L Munier
PURPOSE: To report the occurrence and management of secondary choroidal infiltration in two retinoblastoma (rb) patients. METHODS: Fundus examination and imaging with spectral domain optical coherence tomography (SD-OCT), B-scan ultrasonography (B-scan), and ultrasound biomicroscopy (UBM). RESULTS: Case 1: A 19-month-old girl with multifocal unilateral group B rb pretreated with intravenous chemotherapy (IVC) was referred for further management...
November 3, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29099630/a-novel-deep-intronic-low-penetrance-rb1-variant-in-a-retinoblastoma-family
#9
Sameh E Soliman, Hilary Racher, Melissa Lambourne, Donco Matevski, Heather MacDonald, Brenda Gallie
No abstract text is available yet for this article.
November 3, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29095070/analysis-of-the-polymorphic-variants-of-ran-and-gemin3-genes-and-risk-of-primary-open-angle-glaucoma-in-the-polish-population
#10
Milena Molasy, Anna Walczak, Karolina Przybyłowska-Sygut, Anna Zaleska-Żmijewska, Jerzy Szaflik, Jacek P Szaflik, Ireneusz Majsterek
BACKGROUND: Glaucoma is considered as a neurodegenerative disorder in which the optic nerve damage leads to irreversible blindness. Many scientific findings indicate miRNA implication in the neurodegeneration process. In this study, we aimed to evaluate the polymorphic variants of miRNA processing genes, RAN (rs14035) and GEMIN3 (rs197388), and their association with a risk of primary open-angle glaucoma (POAG) in relation to selected clinical parameters. MATERIALS AND METHODS: The study included 246 POAG patients and 188 controls...
November 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29087762/interactions-among-different-genetic-loci-in-age-related-macular-degeneration
#11
Mortaza Bonyadi, Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri, Masoud Soheilian
PURPOSE: To evaluate the possible synergistic effect of at risk genotypes of ARMS2/LOC387715 (A69S), DNA repair SMUG1 rs3087404, CCL2-2518, C3 (R102G), CFH Y402H, complement factor B (L9H), and complement factor I (CFI) (G119R) in advanced age-related macular degeneration compared to those of healthy controls. Elucidation of synergistic effects between different genetic loci may clarify their pathogenetic pathways. METHODS: We calculated relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP), and synergy index (S) to estimate the additive or supra-additive effects of the mentioned genotypes...
October 31, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29087248/variability-in-clinical-phenotypes-of-prpf8-linked-autosomal-dominant-retinitis-pigmentosa-correlates-with-differential-prpf8-snrnp200-interactions
#12
Pascal Escher, Olga Passarin, Francis L Munier, Viet H Tran, Veronika Vaclavik
PURPOSE: To expand the genotype/phenotype correlations in patients with autosomal dominant retinitis pigmentosa (adRP) harboring PRPF8 variants. MATERIALS AND METHODS: Two patients, a father and his daughter, harboring a novel p.PRPF8-Glu2331* variant, underwent ophthalmic examination at 3-year-interval, including fundus photography, fundus autofluorescence, optical coherence tomography, and ISCEV standard full field ERGs. All reported disease-causing PRPF8 variants were collected and localized in the PRPF8 and PRPF8/SNRNP200 protein structures...
October 31, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29053399/new-pathogenic-variant-in-the-fgf10-gene-in-the-agenesis-of-lacrimal-and-salivary-gland-syndrome-ophthalmological-and-genetic-study
#13
Maria Jesus Rodrigo, Miriam Idoipe, Silvia Izquierdo, Maria Satue, Antonio Mateo, Antonio Sanchez, Elena Garcia-Martin, Luis Pablo
Aplasia/agenesis of lacrimal and salivary glands is a rare congenital defect that has been associated with disturbances in fibroblast growth factor 10 (FGF10). It can present with symptoms of congenital lacrimal obstruction, dry eye, and dry mouth. We report the ophthalmological and genetic study of a 19-year-old woman and her relatives suffering from this syndrome. A new probably pathogenic variant is described in the FGF10 gene.
October 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29039721/a-recurrent-splice-site-mutation-in-epha2-causing-congenital-posterior-nuclear-cataract
#14
Vanita Berry, Nikolas Pontikos, Monica Albarca-Aguilera, Vincent Plagnol, Andreas Massouras, DeQuincy Prescott, Anthony T Moore, Gavin Arno, Michael E Cheetham, Michel Michaelides
Intoduction: Inherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of autosomal dominant (AD) posterior nuclear cataract in a four generation British family. METHODS: Whole genome sequence (WGS) was performed on two affected and one unaffected individual of the family and further validated by direct sequencing. Haplotype analysis was performed via genotying. RESULTS: A splice-site mutation c...
October 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28949779/three-presentations-of-cns-disease-in-patients-with-intraocular-retinoblastoma-at-a-tertiary-medical-center-in-the-united-states
#15
Jonathan W Kim, Bradley H Jacobsen, Marcus Ko, Diana K Lee, Rima F Jubran, Jesse L Berry
BACKGROUND: Patients with intraocular retinoblastoma who present with central nervous (CNS) disease at diagnosis is very rare in developed countries. METHODS: Herein, we report a review of patients with intraocular retinoblastoma diagnosed with concurrent CNS disease in the United States between January 2011 and June 2013. RESULTS: Three patients were identified in this review. The first case is a 2-year old male who presented with unilateral Group E retinoblastoma, optic nerve infiltration to the orbital apex, and a suprasellar mass...
September 26, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28949775/evaluation-of-sflt1-protein-levels-in-human-eyes-with-the-flt1-rs9943922-polymorphism
#16
Kathleen R Chirco, Carly J Lewis, Todd E Scheetz, Rebecca M Johnston, Budd A Tucker, Edwin M Stone, John H Fingert, Robert F Mullins
PURPOSE: Age-related macular degeneration (AMD) is a devastating disease characterized by central vision impairment in individuals with advanced age. Neovascular AMD is a form of end-stage disease in which choroidal vessel outgrowth occurs beneath the retina. While many hypotheses have been raised as to what triggers the formation of pathological choroidal neovascular membranes, the exact mechanism for their initiation remains unresolved. Polymorphisms in the FLT1 gene have previously been associated with neovascular AMD risk, including the rs9943922 single nucleotide polymorphism (SNP)...
September 26, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28945494/identification-of-the-genetic-determinants-responsible-for-retinal-degeneration-in-families-of-mexican-descent
#17
Adda Villanueva, Pooja Biswas, Kameron Kishaba, John Suk, Keerti Tadimeti, Pongali B Raghavendra, Karine Nadeau, Bruno Lamontagne, Lambert Busque, Steve Geoffroy, Ian Mongrain, Géraldine Asselin, Sylvie Provost, Marie-Pierre Dubé, Eric Nudleman, Radha Ayyagari
PURPOSE: To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico. METHODS: A complete ophthalmic evaluation including measurement of visual acuities, Goldman kinetic or Humphrey dynamic perimetry, Amsler test, fundus photography, and color vision testing was performed. Family history and blood samples were collected from available family members. DNA from members of two pedigrees was examined for known mutations using the APEX ARRP genotyping microarray and one pedigree using the APEX LCA genotyping microarray...
September 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28945142/a-novel-dominant-crx-mutation-causes-adult-onset-macular-dystrophy
#18
Joseph F Griffith, Meghan J DeBenedictis, Elias I Traboulsi
BACKGROUND: To present the ophthalmological findings of a mother and son initially diagnosed with benign concentric annular macular dystrophy (BCAMD) and later discovered to carry a novel nonsense mutation in the cone-rod homeobox (CRX) gene (19q13.3). MATERIALS AND METHODS: Patients received ophthalmic examinations and diagnostic testing. The proband underwent sequencing of 131 retinal dystrophy genes. His mother had targeted testing of the identified sequence variations in CRX and BBS12 (4q27)...
September 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28929832/cngb3-mutations-cause-severe-rod-dysfunction
#19
J Maguire, M McKibbin, K Khan, S Kohl, M Ali, D McKeefry
PURPOSE: Congenital achromatopsia or rod monochromatism is a rare autosomal recessive condition defined by a severe loss of cone photoreceptor function in which rods purportedly retain normal or near-to-normal function. This report describes the results of electroretinography in two siblings with CNGB3-associated achromatopsia. METHODS: Full field light- and dark-adapted electroretinograms (ERGs) were recorded using standard protocols detailed by the International Society for Clinical Electrophysiology of Vision (ISCEV)...
September 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28922055/nance-horan-syndrome-in-females-due-to-a-balanced-x-1-translocation-that-disrupts-the-nhs-gene-familial-case-report-and-review-of-the-literature
#20
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra Del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes, Verónica Fabiola Morán-Barroso
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them...
September 18, 2017: Ophthalmic Genetics
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