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Ophthalmic Genetics

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https://read.qxmd.com/read/30767692/ophthalmologic-findings-in-the-cornelia-de-lange-syndrome
#1
Angell Shi, Alex V Levin
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the characterization of these clinical features and the genetic basis of the syndrome. MATERIALS AND METHODS: We included 37 articles that were identified through an electronic search in PubMed and through the reference lists of previously conducted reviews...
February 15, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30767687/novel-ocular-findings-in-oculodentodigital-dysplasia-oddd-a-case-report-and-literature-review
#2
Zhirong Wang, Limei Sun, Panfeng Wang, Chonglin Chen, Aiyuan Zhang, Weiqing Wang, Xiaoyan Ding
BACKGROUND: Oculodentodigitaldysplasia (ODDD; MIM no. 164200) is a rare hereditary disorder caused by mutations in the gene GJA1.Ocular disorders included microcornea, cornea opacity and glaucoma. However, few studies described fundus findings. MATERIALS AND METHODS: Ophthalmic examination included visual acuity measurement, intraocular pressure (IOP) measurements, slit-lamp biomicroscopy, B-scan ultrasonography, Ultrasound biomicroscopy (UBM), spectral-domain optical coherence tomography (SD-OCT), ERG and retcam fluorescein angiogram...
February 15, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30729852/macular-degeneration-as-a-common-cause-of-visual-loss-in-spinocerebellar-ataxia-type-1-sca1-patients
#3
Koji M Nishiguchi, Masashi Aoki, Toru Nakazawa, Toshiaki Abe
BACKGROUND: Spinocerebellar ataxia type 1 (SCA1) caused by pathogenic CAG repeat expansion in the ATXN1 is characterized by loss of vision with little fundus abnormalities in some patients. Recently, macular degeneration has been reported to account for the visual symptoms in sporadic cases. MATERIALS AND METHODS: Five consecutive patients diagnosed as SCA1 with supporting genetical evidence were newly referred to ophthalmology department from neurology unit. They underwent ocular examination to assess visual acuity and the structural integrity of the macula using optical coherent tomography (OCT)...
February 7, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30729851/polymorphism-rs7961953-in-tmtc2-gene-is-not-associated-with-primary-open-angle-glaucoma-in-a-saudi-cohort
#4
Altaf A Kondkar, Taif A Azad, Faisal A Almobarak, Khaled K Abu-Amero, Saleh A Al-Obeidan
No abstract text is available yet for this article.
February 7, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30714452/enhanced-expression-of-son-of-sevenless-homolog-1-is-predictive-of-poor-prognosis-in-uveal-malignant-melanoma-patients
#5
Yan-Shuang Wang, Lan Wu
PURPOSE: The work outlined herein investigated the prognosis value and the potential role son of sevenless homolog 1 (SOS1) played in uveal melanoma (UM). METHODS: We analyzed the mRNA expression level of SOS1 in primary UM cells based on the GSE44295 dataset obtained from the Gene Expression Omnibus (GEO, http://www.ncbi.nlm.nih.gov/geo/ ) database. The correlation between SOS1 expression and clinical characteristics were analyzed by Chi-squared (χ2 ) test. Then we used SOS1 siRNA to downregulate SOS1 expression in M23 cells...
February 4, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30712445/unilateral-retinoblastoma-in-a-patient-with-hermansky-pudlak-syndrome
#6
Michala Burges, Benjamin King, Rose McGee, Rachel Brennan, Matthew Wilson
No abstract text is available yet for this article.
February 4, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30707043/comment-novel-mutations-in-the-opn1lw-and-nr2r3-genes-in-a-patient-with-blue-cone-monochromacy
#7
Pascal Escher
No abstract text is available yet for this article.
February 1, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30632873/response-to-weisschuh-s-comment-a-novel-missense-mutation-in-best1-associated-with-an-autosomal-dominant-vitreoretinochoroidopathy-advirc-phenotype
#8
Fukutaro Mano, Cynthia Pfannkoch, Stephen A LoBue, Timothy W Olsen, Alan D Marmorstein, Jose S Pulido
No abstract text is available yet for this article.
January 11, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30632872/comment-a-novel-missense-mutation-in-best1-associated-with-an-autosomal-dominant-vitreoretinochoroidopathy-advirc-phenotype
#9
Nicole Weisschuh
No abstract text is available yet for this article.
January 11, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30614359/novel-mutations-in-the-opn1lw-and-nr2r3-genes-in-a-patient-with-blue-cone-monochromacy
#10
Bincui Cai, Zhiqing Li, Shuo Sun, Linni Wang, Lu Chen, Jin Yang, Xiaorong Li
BACKGROUND: To clarify the diagnosis of a Chinese patient with novel double heterozygous in the NR2E3 and OPN1LW genes and describe the clinical features. MATERIALS AND METHODS: A 47-year-old man presented with an 8-year history of decreased vision and poor night vision. Based on his clinical phenotype, we focused on 36 genes associated with these characteristics. Possible pathogenic mutation sites were screened by next-generation sequencing (NGS), which showed novel mutations in the NR2E3 and OPN1LW genes...
January 7, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30608193/further-phenotypic-characterization-of-leprel1-related-ectopia-lentis
#11
Arif O Khan
No abstract text is available yet for this article.
January 4, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30608181/overlapping-retinal-phenotypes-in-a-consanguineous-family-harboring-mutations-in-crb1-and-rs1
#12
Arif O Khan, Ibraheem A El-Ghrably
PURPOSE: To describe and distinguish overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1, two different genes that are associated with splitting of the central neurosensory retina. METHODS: Retrospective case series. RESULTS: Three siblings and their father had decreased vision from early childhood, but the father was unavailable for clinical examination. The proband, an 11-year old boy, had clinical features classic for CRB1-retinopathy (nummular pigmentary degeneration, relatively plump vessels, thickened retinal by optical coherence tomography with cystoid splitting in the central macula)...
January 4, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30600744/late-diagnosis-of-alstrom-syndrome-in-a-yemenite-jewish-child
#13
Shirel Weiss, Lior Cohen, Tamar Ben-Yosef, Miriam Ehrenberg, Nitza Goldenberg-Cohen
BACKGROUND: We describe the ophthalmologic, clinical, and genetic findings in a patient of Yemenite-Jewish origin diagnosed with Alstrom syndrome due to a novel splice-site mutation 10 years after a clinical misdiagnosis of Leber congenital amaurosis. METHODS: Ophthalmological evaluations included visual acuity, cycloplegic refraction, slit-lamp, and optical coherent tomography. Genetic analyses included whole exome sequencing followed by bioinformatics analysis and segregation analysis...
January 2, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30600741/loss-of-ciliary-zonule-protein-hydroxylation-and-lens-stability-as-a-predicted-consequence-of-biallelic-asph-variation
#14
Owen M Siggs, Emmanuelle Souzeau, Jamie E Craig
PURPOSE: Stability of the crystalline lens requires formation of microfibril bundles and their higher-order structures of ciliary zonules. Trauma, malformation, or degeneration of the ciliary zonules can lead to dislocation or displacement of the lens, which in turn can cause transient or permanent loss of visual acuity. The purpose of this study was to identify the predicted substrates of aspartyl/asparaginyl hydroxylase (ASPH), a 2-oxoglutarate- and Fe2+ -dependent hydroxylase, which may account for the lens instability phenotype of ASPH-associated syndromes...
January 2, 2019: Ophthalmic Genetics
https://read.qxmd.com/read/30592234/extreme-myopia-in-a-family-with-a-missense-pax6-mutation-extended-phenotype
#15
Vasily M Smirnov, Patrick Calvas, Isabelle Drumare, Caroline Marks, Sabine Defoort-Dhellemmes
No abstract text is available yet for this article.
December 28, 2018: Ophthalmic Genetics
https://read.qxmd.com/read/30589393/bull-s-eye-maculopathy-caused-by-a-novel-impg-1-mutation
#16
Ana González-Gómez, Jose Lorenzo Romero-Trevejo, Antonio García-Ben, Jose Manuel García-Campos
No abstract text is available yet for this article.
December 27, 2018: Ophthalmic Genetics
https://read.qxmd.com/read/30589377/early-posterior-vitreous-detachment-is-associated-with-lama5-dominant-mutation
#17
Filomena Napolitano, Valentina Di Iorio, Giuseppe Di Iorio, Mariarosa Anna Beatrice Melone, Fernando Gianfrancesco, Francesca Simonelli, Teresa Esposito, Francesco Testa, Simone Sampaolo
BACKGROUND: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene...
December 27, 2018: Ophthalmic Genetics
https://read.qxmd.com/read/30589367/retinal-venous-tortuosity-in-a-woman-hemizygous-for-mbtps2-mutation
#18
Arif O Khan, Amal M Al Teneiji
No abstract text is available yet for this article.
December 27, 2018: Ophthalmic Genetics
https://read.qxmd.com/read/30585525/a-novel-causative-mutation-for-congenital-cataract-and-its-underlying-pathogenesis
#19
Yanghui Xiu, Yuanrong Fan, Kangni Wu, Shuimiao Chen, Meihua Pan, Xun Xu, Yihua Zhu
No abstract text is available yet for this article.
December 26, 2018: Ophthalmic Genetics
https://read.qxmd.com/read/30507261/evidence-of-retinal-degeneration-in-wolfram-syndrome
#20
Matteo Scaramuzzi, Priyanka Kumar, Neal Peachey, Paolo Nucci, Elias I Traboulsi
PURPOSE: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration. MATERIALS AND METHODS: Observational case series. Patients underwent complete ocular examinations as well as retinal imaging and electroretinography. RESULTS: Both patients had electroretinographic evidence of retinal dysfunction/degeneration in addition to optic atrophy with an otherwise normal-appearing retina...
December 3, 2018: Ophthalmic Genetics
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