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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/28812413/unusual-retinopathy-in-a-child-with-severe-combined-immune-deficiency
#1
Christina Gerth-Kahlert, Amit Tiwari, Mathias M Hauri-Hohl, James V M Hanson, Angela Bahr, Anja Palmowski-Wolfe, Tayfun Güngör, Wolfgang Berger
We describe a case of an infant diagnosed with severe combined immune deficiency (Adenosine Deaminase (ADA), SCID) with severe retinopathy and associated low vision in both eyes at first examination. An extensive infectious work up revealed an enterovirus infection, which suggested an early infectious and severe retinopathy. Genetic causes of congenital retinitis pigmentosa/ Leber's congenital amaurosis could be excluded by whole exome sequencing.
August 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28805541/lack-of-foxe3-coding-mutation-in-a-case-of-congenital-aphakia
#2
Yusuke Sano, Yusuke Matsukane, Akihisa Watanabe, Ko-Hei Sonoda, Hiroyuki Kondo
PURPOSE: To report the findings in a patient with congenital primary aphakia, a rare disease known to be caused by mutations in the FOXE3 gene. METHODS: The clinical appearances and visual functions of the patient were determined from the medical records. Genetic analyses were performed to search for mutations in the FOXE3 gene by Sanger sequencing and whole exome sequencing. RESULTS: The 2-month-old male patient first presented with bilateral congenital aphakia associated with microphthalmia, corneal opacity, and dysplasia of the anterior segment...
August 14, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28805479/on-variants-and-disease-causing-mutations-case-studies-of-a-sema4a-variant-identified-in-inherited-blindness
#3
Laura Bryant, Olga Lozynska, Grace Han, Jessica I W Morgan, Xiaowu Gai, Albert M Maguire, Tomas Aleman, Jean Bennett
The p.R713Q variant of the semaphorin-4a-encoding gene, SEMA4a, has been reported to cause autosomal dominant retinitis pigmentosa. Here we show three families with retinal degeneration in which unaffected family members are either homozygous or heterozygous for the variant. The p.R713Q variant in SEMA4A is insufficient to cause either autosomal recessive or autosomal dominant retinitis pigmentosa and is unlikely to be pathogenic.
August 14, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28799822/corneal-ectasia-in-a-boy-with-homozygous-kera-mutation
#4
Arif O Khan
No abstract text is available yet for this article.
August 11, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28786713/corrigendum
#5
(no author information available yet)
No abstract text is available yet for this article.
August 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28742462/a-novel-iris-transillumination-grading-scale-allowing-flexible-assessment-with-quantitative-image-analysis-and-visual-matching
#6
Chen Wang, Flavia Brancusi, Zaheer M Valivullah, Michael G Anderson, Denise Cunningham, Adam Hedberg-Buenz, Bradley Power, Dimitre Simeonov, William A Gahl, Wadih M Zein, David R Adams, Brian Brooks
PURPOSE: To develop a sensitive scale of iris transillumination suitable for clinical and research use, with the capability of either quantitative analysis or visual matching of images. METHODS: Iris transillumination photographic images were used from 70 study subjects with ocular or oculocutaneous albinism. Subjects represented a broad range of ocular pigmentation. A subset of images was subjected to image analysis and ranking by both expert and nonexpert reviewers...
July 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28726569/founder-ashkenazi-jewish-mutations-of-large-deletion-in-the-inherited-retinal-dystrophy-genes
#7
John Pei-Wen Chiang, Hongyu Luo, Jie Duan, Josef Ekstein, Yoel Hirsch
No abstract text is available yet for this article.
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28726568/double-hyperautofluorescent-ring-on-fundus-autofluorescence-in-abca4
#8
Maria Fernanda Abalem, Cynthia X Qian, Kari Branham, Dana Schlegel, Abigail T Fahim, Naheed W Khan, John R Heckenlively, K Thiran Jayasundera
We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression. At the time of his initial visit, the 6-year-old boy presented with 20/200 OD (right eye) and 20/150 OS (left eye), symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence...
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28726533/ophthalmic-findings-in-patients-with-arterial-tortuosity-syndrome-and-carriers-a-case-series
#9
Joshua S Hardin, Yuri A Zarate, Bert Callewaert, Paul H Phillips, David B Warner
INTRODUCTION: Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disease hallmarked by tortuosity, stenosis, and aneurysm development of large- and medium-sized arteries. Mutations in SLC2A10, a gene that encodes the facilitative glucose transporter GLUT10, cause ATS. Several case reports have noted associated ophthalmic findings such as keratoconus, keratoglobus, and myopia without detailed descriptions or standardized examinations. We report the ophthalmic findings in a cohort of compound heterozygous ATS patients and heterozygous carriers of SLC2A10 mutations...
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28704163/prevalence-of-macular-abnormalities-assessed-by-optical-coherence-tomography-in-patients-with-usher-syndrome
#10
Francesco Testa, Paolo Melillo, Settimio Rossi, Vincenzo Marcelli, Antonella de Benedictis, Raffaella Colucci, Beatrice Gallo, Raffaella Brunetti-Pierri, Simone Donati, Claudio Azzolini, Elio Marciano, Francesca Simonelli
BACKGROUND: To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). MATERIAL AND METHODS: A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH)...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28704127/retinal-mirnas-variations-in-a-large-cohort-of-inherited-retinal-disease
#11
Xiu-Feng Huang, Zhi-Qin Huang, Xiao-Long Fang, Zhen-Ji Chen, Wan Cheng, Zi-Bing Jin
BACKGROUND: Although great efforts have been paid on identification of genetic predisposition in the inherited retinal disease (IRD), genetic causes of a large proportion of patients remain a mystery. This dilemma makes us attempt to speculate that genetic components other than coding genes might be an additional pool predisposing IRD. In this study, we aim to perform a mutational screening in a large cohort of IRD patients with a particular focus on retina-specific or abundant microRNAs (miRs)...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28704110/challenges-of-managing-retinal-dystrophies-an-experience-from-south-india
#12
Rajani Battu, Ashwin Mallipatna, Niby Jacob Elackatt, Jan S A G Schouten, Carroll A B Webers
No abstract text is available yet for this article.
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28704108/reliability-of-kinetic-visual-field-testing-in-children-with-mutation-proven-retinal-dystrophies-implications-for-therapeutic-clinical-trials
#13
Vaidehi S Dedania, Jerry Y Liu, Dana Schlegel, Chris A Andrews, Kari Branham, Naheed W Khan, David C Musch, John R Heckenlively, K Thiran Jayasundera
PURPOSE: Kinetic visual field testing is used to monitor disease course in retinal dystrophy clinical care and treatment response in treatment trials, which are increasingly recruiting children. This study investigates Goldmann visual field (GVF) changes in young children with mutation-proven retinal dystrophies as they age and with progression of the retinal degeneration. METHODS: Retrospective review of children ≤ 17 years old with a mutation-proven retinal dystrophy...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28569566/ocular-biometry-and-determinants-of-refractive-error-in-a-founder-population-of-european-ancestry
#14
Sarah M Hilkert, Reut Parness-Yossifon, Rebecca Mets-Halgrimson, Marilyn B Mets
BACKGROUND: The prevalence of myopia is increasing worldwide. Previous studies have found a positive association between myopia, education, and near activities, while others have noted a negative association with outdoor exposure. This study reports refractive error and biometry in a founder population of European ancestry, the Hutterites, and discusses risk factors contributing to myopia. METHODS: Cross-sectional study, including complete eye exams with retinoscopy and biometry...
June 1, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28557656/type-i-membranous-anomaly-in-stickler-syndrome
#15
Philip Alexander, Arabella Poulson, Annie McNinch, Allan Richards, Martin Snead
No abstract text is available yet for this article.
May 30, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28557591/cd36-gene-is-associated-with-intraocular-pressure-elevation-after-intravitreal-application-of-anti-vegf-agents-in-patients-with-age-related-macular-degeneration-implications-for-the-safety-of-the-therapy
#16
Veronika Matušková, Vladimir J Balcar, Naim A Khan, Ondřej Bonczek, Laura Ewerlingová, Tomáš Zeman, Petr Kolář, Daniela Vysloužilová, Eva Vlková, Omar Šerý
BACKGROUND: The wet form of age-related macular degeneration (AMD) is characterized by pathological vascularization of the outer retinal layers. The condition responds to treatment with antibodies against vascular endothelial growth factor (VEGF), but the patients receiving such anti-VEGF therapy sometimes show undesirable acute short-term increases in the intraocular pressure (IOP). The cause of this adverse effect is unknown, and here, we are testing a hypothesis that it is related to CD36 gene polymorphisms...
May 30, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28513254/peripapillary-sparing-in-rdh12-associated-leber-congenital-amaurosis
#17
Aakriti Garg, Winston Lee, Jesse D Sengillo, Rando Allikmets, Kartik Garg, Stephen H Tsang
BACKGROUND: Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. MATERIALS AND METHODS: We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. RESULTS: Fundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for the peripapillary region in both eyes of all patients...
May 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28511025/co-inheritance-of-the-membrane-frizzled-related-protein-ocular-phenotype-and-glycogen-storage-disease-type-ib
#18
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani, Khalid Al Thihli
AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region...
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28511019/a-novel-grk1-mutation-in-an-italian-patient-with-oguchi-disease
#19
Dario Pasquale Mucciolo, Andrea Sodi, Vittoria Murro, Ilaria Passerini, Simona Palchetti, Elisabetta Pelo, Gianni Virgili, Stanislao Rizzo
No abstract text is available yet for this article.
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28481155/a-unique-case-series-of-autosomal-recessive-bestrophinopathy-exhibiting-multigenerational-inheritance
#20
Joshua S Hardin, G Bradley Schaefer, Ahmed B Sallam, M Kathryn Williams, Sami Uwaydat
INTRODUCTION: Autosomal recessive bestrophinopathy (ARB) is a retinal disease caused by biallelic mutations of the BEST1 gene. It has a variable phenotype with white flecks in the retina, multifocal yellow subretinal deposits, macular edema, choroidal neovascularization, hyperopia, and electrophysiological abnormalities. We describe a family with ARB and multigenerational inheritance. METHODS: Three generations of a Middle Eastern family (a woman, one son, and two grandchildren) were evaluated by our ocular genetics team...
May 8, 2017: Ophthalmic Genetics
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