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Ophthalmic Genetics

Michael Zhang, Paul N Baird
The genomic revolution has revealed the complexity of multifactorial diseases, making the development of effective diagnostics extremely challenging. In turn, the prospect of precision medicine as applied through targeted therapeutic treatments continues to remain largely elusive. Age-related macular degeneration (AMD) as a complex disease falls under this category, despite it being one of the most well characterized multifactorial diseases. This reflects both the extent of identified genetic components and known environmental risk factors...
November 30, 2016: Ophthalmic Genetics
Kamron N Khan, Keren Carss, F Lucy Raymond, Farrah Islam, Nihr BioResource-Rare Diseases Consortium, Anthony T Moore, Michel Michaelides, Gavin Arno
Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy and ocular colobomata. This combination of clinical signs and consanguineous pedigree structure suggested a genetic basis for the disease, a hypothesis that was tested using whole genome sequencing. Bi-allelic mutations in RBP4 were identified (c.248+1G>A), consistent with a diagnosis of inherited vitamin A deficiency...
November 28, 2016: Ophthalmic Genetics
Jose Navarro-Partida, Beatriz Alvarado Castillo, Abril Bernardette Martinez-Rizo, Ramses Rosales-Diaz, Jesus Bernardino Velazquez-Fernandez, Arturo Santos
BACKGROUND: Toll-like receptor 4 (TLR4) non-coding polymorphisms are associated to primary open angle glaucoma (POAG), normal tension glaucoma, and pseudoexfoliation glaucoma. This study was performed to determine whether non-coding single nucleotide polymorphisms (SNPs) in the TLR4 gene contribute to POAG in a Mexican population. MATERIAL AND METHODS: A total of 187 unrelated Mexican patients with POAG and 109 control subjects were included. Allelic, genotypic, and haplotypic diversity was assessed for the non-coding polymorphisms rs11536889, rs1927911, rs12377632, and rs2149356 of the TLR4 gene...
November 28, 2016: Ophthalmic Genetics
George Trichonas, Elias I Traboulsi, Justis P Ehlers
PURPOSE: Ultra-widefield fundus autofluorescence (UW-FAF) allows the characterization of the peripheral retinal features of vitreoretinal diseases. The purpose of this study was to examine possible genotypic/phenotypic correlations of UW-FAF patterns in patients with a variety of retinal dystrophies and retinitis pigmentosa (RP). METHODS: An IRB-approved retrospective consecutive case series study was performed of genetically characterized retinal dystrophy or RP patients who underwent UW-FAF imaging...
November 23, 2016: Ophthalmic Genetics
Egle Preiksaitiene, Birutė Tumienė, Živilė Maldžienė, Erinija Pranckevičienė, Aušra Morkūnienė, Algirdas Utkus, Vaidutis Kučinskas
BACKGROUND: Blepharophimosis is a fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. It is a rare facial malformation and is considered an important diagnostic feature in dysmorphic analysis. It is likely that many patients with blepharophimosis-mental retardation syndrome have submicroscopic chromosomal rearrangements, and the use of molecular karyotyping can narrow the known blepharophimosis-mental retardation-critical regions or clarify the effect of the haploinsufficiency of the involved genes on the phenotype...
November 23, 2016: Ophthalmic Genetics
Ujwala S Saboo, Devi Penke, Avinash Mahindrakar, Madhu Uddaraju, Chandrasekhar Sankurathri, Xin Gong, Chao Xing, V Vinod Mootha
No abstract text is available yet for this article.
September 26, 2016: Ophthalmic Genetics
Arif O Khan, Steffen Lenzner, Hanno J Bolz
PURPOSE: To document recessive FZD4-related familial exudative vitreoretinopathy. METHODS: Retrospective case series. RESULTS: Two brothers, the only two males among five siblings, had bilateral infantile retinal detachments and were referred for genetic counseling. Next-generation sequencing uncovered a homozygous FZD4 frameshift deletion in both affected brothers (c.40_49delCCCGGGGGCG; p.Pro14Serfs*44). None of the other immediate family members had clinical evidence for retinal disease, including the three family members who underwent confirmatory genetic testing and were found to be heterozygous for the mutation (both parents and one sister)...
September 26, 2016: Ophthalmic Genetics
Gloria López-Valverde, Elena Garcia-Martin, Javier Fernández-Mateos, Fernando Cruz-González, José M Larrosa-Povés, Vicente Polo-Llorens, Luis E Pablo-Júlvez
BACKGROUND: The purpose of this study was to attempt to determine if the presence of certain polymorphisms in the DNA repair genes (ERCC1, ERCC2, and XRCC1) is associated with pre-senile cataract development. MATERIALS AND METHODS: We performed a retrospective study over three groups of patients. The first group with pre-senile cataract was formed by 72 patients younger than 55 years with cataract surgery. The second group with senile cataract was formed by 101 patients older than 55 years with cataract surgery...
September 26, 2016: Ophthalmic Genetics
E Ullah, D Wu, L Madireddy, R Lao, P Ling-Fung Tang, E Wan, T Bardakjian, S Kopinsky, P-Y Kwok, A Schneider, S Baranzini, M Ansar, A Slavotinek
To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects, and growth delays. We found two sequence variants in SALL4 - c.[575C>A], predicting p.(Ala192Glu), that was paternally inherited, and c.[2053G>C], predicting p.(Asp685His), that was maternally inherited. Haploinsufficiency for SALL4 due to nonsense or frameshift mutations has been associated with acro-renal ocular syndrome that is characterized by eye defects including Duane anomaly and coloboma, in addition to radial ray malformations and renal abnormalities...
September 23, 2016: Ophthalmic Genetics
Cassandra Skinner, Virginia Miraldi Utz
Cataract is the most common cause of blindness and a major cause of visual impairment worldwide. As the world's population ages, cataract-induced visual impairment is of increasing prevalence, and treatment is limited to those with access to surgical care. While cataracts are mainly a disease of the elderly, infantile cataracts lead to lifelong visual impairment if untreated. Even in those with surgical treatment early in life, visual prognosis is often guarded. Consequently, there is an increasing impetus for alternative therapeutic modalities...
September 20, 2016: Ophthalmic Genetics
Maree Flaherty, Katie Geering, Stephanie Crofts, John Grigg
BACKGROUND: Sly syndrome (Mucopolysaccharidosis Type VII) is an autosomal recessive metabolic storage disorder due to mutations in the GUSB gene encoding the enzyme beta-glucuronidase. Deficiency of this lysosomal enzyme impairs the body's ability to break down the glycosaminoglycans - dermatan, heparan and chondroitin sulphate. Coarse facial features and macrocephaly are typically seen along with bony and skeletal abnormalities, including joint contractures and short stature. Widespread involvement occurs in many other tissues including cardiopulmonary, gastrointestinal, and neurological systems...
September 20, 2016: Ophthalmic Genetics
David A Mackey
The Marshall Parks Lecture 2015, entitled "Myopia-The future progression of myopia: Seeing where we are going," was presented by Professor David A. Mackey at the American Academy of Ophthalmology meeting held in Las Vegas in November 2015.
December 2016: Ophthalmic Genetics
(no author information available yet)
No abstract text is available yet for this article.
December 2016: Ophthalmic Genetics
Nicole M Fuerst, Leona Serrano, Grace Han, Jessica I W Morgan, Albert M Maguire, Bart P Leroy, Benjamin J Kim, Tomas S Aleman
PURPOSE: To describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (Avastin(®); Genentech/Roche). METHODS: A 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del13/p.H331P:c992A>C) underwent a complete ophthalmic examination, full-field flash electroretinography (ERG), kinetic and two-color dark-adapted perimetry, and dark-adaptometry...
December 2016: Ophthalmic Genetics
Mélanie Fradin, Estelle Colin, Daniele Hannouche-Bared, Isabelle Audo, Jose Alain Sahel, Saskia Biskup, Wilfried Carré, Alban Ziegler, Christian Wilhelm, Agnès Guichet, Sylvie Odent, Dominique Bonneau
No abstract text is available yet for this article.
September 2016: Ophthalmic Genetics
Arif O Khan, Hanno J Bolz
PURPOSE: Recessive mutations in CDH3 cause "hypotrichosis with juvenile macular dystrophy," typically recognized by the presence of prominent dermatological features. We report novel phenotypic observations and associated mutations in four patients from three families, including one who did not have frank hypotrichosis. METHODS: Retrospective case series (2010-2014). RESULTS: Four affected individuals from three consanguineous Arabian families were identified...
September 2016: Ophthalmic Genetics
Tuba Celik
Dermoid cysts are one of the most common non-inflammatory space-occupying orbital lesions in the pediatric population. They are ectodermal cysts which may contain squamous epithelium with dermal contents such as skin, hair follicles, sebaceous glands, or sweat glands. Dermoid cyts are often innocent, however complications such as inflammation of the fistula or preseptal cellulitis are occasionally seen. We present a case of a 6-year-old girl with a glabellar dermoid cyst and describe the appropriate investigations and definitive treatment...
September 2016: Ophthalmic Genetics
Faruk H Orge, Suhail A Dar, Christie N Blackburn, Sarah J Grimes-Hodges, Anna L Mitchell
PURPOSE: To report the newest ophthalmic manifestations of a mother-daughter pair diagnosed with toe syndactyly, telecanthus, anogenital and renal malformations (STAR) syndrome, a rare X-linked developmental disorder. METHODS: The medical and ophthalmic records were reviewed for a mother-daughter pair diagnosed with FAM58A confirmed STAR syndrome on chromosome Xq28. RESULTS: The mother at birth had left foot syndactyly, telecanthus, anal stenosis, and clitoromegaly and was told at 19 she had a hypoplastic left kidney...
September 2016: Ophthalmic Genetics
Nils Rahner, Gudrun Nuernberg, David Finis, Peter Nuernberg, Brigitte Royer-Pokora
BACKGROUND: To identify the disease-causing mutation in a consanguineous family of Morrocan origin with syndromic autosomal recessive (ar) cone-rod dystrophy (CRD) in two patients and describe genotype-phenotype correlations. MATERIALS AND METHODS: Genome-wide homozygosity mapping and direct sequencing of C8orf37, located in a homozygous interval, was performed in the family. mRNA analysis revealed the effect of the newly identified splice-site mutation. For a comparative analysis phenotypic and genetic data of C8orf37 mutations were extracted from published cases...
September 2016: Ophthalmic Genetics
Horbelys O Guzmán, Aura M Palacios, María I De Almada, René A Utrera
BACKGROUND: Macanao's population in Venezuela has perhaps the greatest incidence of USH1B known in Latin America (79 cases per 100,000 population); however, until now no mutation in the MYO7A gene had been reported for this population. MATERIALS AND METHODS: This study aimed to evaluate the entire coding region of the MYO7A gene by direct sequencing of PCR products obtained from patients clinically diagnosed with USH1B. RESULTS: A novel mutation named c...
September 2016: Ophthalmic Genetics
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