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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/28929832/cngb3-mutations-cause-severe-rod-dysfunction
#1
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
#2
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
https://www.readbyqxmd.com/read/28910179/phenotypic-differences-between-familial-versus-non-familial-juvenile-onset-open-angle-glaucoma-patients
#3
Viney Gupta, Ashish Markan, Bindu I Somarajan, Ramanjit Sihota, Amisha Gupta, Shikha Gupta, Arundhati Sharma
AIM: To evaluate phenotypic differences among familial and non-familial JOAG patients. METHODS: First degree relatives of unrelated JOAG patients were screened for glaucoma and ocular hypertension. JOAG probands were grouped as familial or non-familial and phenotypic differences in terms of age of onset, gender, baseline untreated IOP, presence angle dysgenesis, and refractive error was compared between the two groups. RESULTS: Out of 368 unrelated JOAG patients, 134 in whom all first degree relatives had been examined were included in the study...
September 14, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28885867/clinical-characteristics-of-recessive-retinal-degeneration-due-to-mutations-in-the-cdhr1-gene-and-a-review-of-the-literature
#4
A P Bessette, M J DeBenedictis, E I Traboulsi
BACKGROUND: The clinical phenotype of patients presenting with autosomal recessive CDHR1-related retinopathy has not been well described. MATERIALS AND METHODS: This is a retrospective case series of patients presenting to a single institution. Clinical data, including age, visual acuity, dilated fundus exam, fundus photos, fundus autofluorescence (FAF), optical coherence tomography, full-field electroretinograms (ERGs), and results of genetic testing, were collected...
September 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28846052/association-of-htra1-rs11200638-with-age-related-macular-degeneration-amd-in-brazilian-patients
#5
Tamires Prates Lana, Sueli Matilde da Silva Costa, Galina Ananina, Fábio Endo Hirata, Priscila Hae Hyun Rim, Flávio MacCord Medina, José Paulo Cabral de Vasconcellos, Mônica Barbosa de Melo
Age-related macular degeneration is a multifactorial disease that can lead to vision impairment in older individuals. Although the etiology of age-related macular degeneration remains unknown, risk factors include age, ethnicity, smoking, hypertension, obesity, and genetic factors. Two main loci have been identified through genome-wide association studies, on chromosomes 1 and 10. Among the variants located at the 10q26 region, rs11200638, located at the HTRA1 gene promoter, has been associated with age-related macular degeneration in several populations and is considered the main polymorphism...
August 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28836894/a-novel-mutation-of-mip-in-a-chinese-family-with-congenital-nuclear-cataract-identified-by-whole-exome-sequencing
#6
Shuaimei Liu, Peiran Zhu, Mengxia Ni, Mingchao Zhang, Weijun Jiang, Maomao Yu, Jing Zhang, Qiuyue Wu, Weiwei Li, Chunyan Xue, Xinyi Xia
No abstract text is available yet for this article.
August 24, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28829657/association-of-catalase-polymorphisms-with-primary-open-angle-glaucoma-in-a-chinese-population
#7
Bo Gong, Yi Shi, Chao Qu, Zimeng Ye, Yilin Yin, Chang Tan, Ping Shuai, Jing Li, Xiaoxin Guo, Yilian Cheng, Zhenglin Yang, Ying Lin, Xiaoqi Liu
PURPOSE: Many genes have been associated with primary open-angle glaucoma (POAG). This study was conducted to investigate whether catalase (CAT) polymorphisms play a significant role in POAG in a Chinese population. METHODS: A cohort of 416 unrelated POAG patients and 997 unrelated control subjects was included in this case-control association study. CAT functional single-nucleotide polymorphisms (SNPs), including rs1001179, rs7943316, and rs769217, were genotyped by SNaPshot method...
August 22, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28820625/multimodal-image-analysis-of-the-retina-in-hunter-syndrome-mucopolysaccharidosis-type-ii-case-report
#8
Isadora Darriba Macedo Salvucci, Simone Finzi, Maria Kiyoko Oyamada, Chong Ae Kim, Sérgio Luis Gianotti Pimentel
INTRODUCTION: We report a case of retinal and posterior ocular findings in a 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) in a multimodal imaging way. CASE PRESENTATION: Our patient was complaining of blurred night vision for the past 3 years. He had not received any systemic treatment for Hunter syndrome. Vision acuity was 20/20 in both eyes and corneas were clear. Fundus examination revealed bilateral crowded and hyperemic optic nerve heads (elevated in the ocular ultrasound) and areas of subretinal hypopigmentation...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#9
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28812413/unusual-retinopathy-in-a-child-with-severe-combined-immune-deficiency
#10
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
#11
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
#12
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
#13
Arif O Khan
No abstract text is available yet for this article.
August 11, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28786713/corrigendum
#14
(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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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