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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/29989474/ectopic-thyroid-choroidal-mass-in-linear-nevus-sebaceous-syndrome
#1
Jose J Echegaray, Gabrielle Yeaney, Rachel Chen, Claudine Bellerive, Arun D Singh
No abstract text is available yet for this article.
July 10, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29985682/bilateral-angle-closure-glaucoma-in-a-28-year-old-cohen-syndrome-patient
#2
Ang Li, Alisha Gandhi, Heng Wang, Elias I Traboulsi
No abstract text is available yet for this article.
July 9, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29979901/retinal-involvement-in-m-3243a-g-carriers
#3
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
July 6, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29952689/clinical-and-genetic-features-of-eight-chinese-autosomal-dominant-optic-atrophy-pedigrees-with-six-novel-opa1-pathogenic-variants
#4
Huajin Li, Evan M Jones, Hui Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Rui Chen, Fangtian Dong, Ruifang Sui
BACKGROUND: Autosomal-dominant optic atrophy (ADOA) is one of the most common types of inherited optic atrophy. We identify OPA1 pathogenic variants and assess the clinical features of a cohort of Chinese ADOA patients Materials and Methods: Detailed clinical evaluations were performed and genomic DNA was extracted from peripheral blood for all the participants. Sanger sequencing was used to analyze all exons and exon/intron junctions of OPA1 for eight pedigrees. Target exome capture plus next-generation sequencing (NGS) were applied for one atypical family with photophobia...
June 28, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29939824/vitamin-a-in-stargardt-disease-an-evidence-based-update
#5
Cecilie Aalund Federspiel, Mette Bertelsen, Line Kessel
BACKGROUND: High intake of vitamin A is suspected to be a risk factor for the progression of Stargardt disease (STGD1) and many health authorities recommend Stargardt patients not to use oral vitamin A supplements outside that provided naturally in the food. The present study provides the first systematic review of the current level of evidence regarding the role of supplementary vitamin A in STGD1. MATERIALS AND METHODS: We conducted a systematic scientific literature search in the Pubmed database on studies reporting on the effect of oral vitamin A or serum retinol on visual function...
June 25, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29939822/case-series-effect-of-dermis-fat-implants-in-different-late-onset-socket-problems-encountered-in-retinoblastoma-patients
#6
Daphne L Mourits, Maarten P Mourits, Roel J H M Kloos, H Stevie Tan, Annette C Moll, Dyonne T Hartong
BACKGROUND: Cosmetic dissatisfaction, pain, and chronic discharge may present months till years after enucleation in patients operated because of retinoblastoma. If noninvasive treatment modalities are insufficient, socket reconstruction can be considered. In this study, we discuss the results of dermis-fat exchange to treat these problems. METHOD: Four patients with late onset post enucleation socket problems with a request for treatment were included in this prospective study...
June 25, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29902091/a-novel-deletion-downstream-of-the-pax6-gene-identified-in-a-chinese-family-with-congenital-aniridia
#7
Xiaoqi Liu, Yaqi Wu, Zequn Miao, Houbin Zhang, Bo Gong, Xianjun Zhu, Lulin Huang, Yi Shi, Fang Hao, Shi Ma, He Lin, Lejin Wang, Zhenglin Yang
PURPOSE: Congenital aniridia, a severe bilateral panocular visual disorder, is an autosomal dominantly inherited eye anomaly. Mutations in the paired box 6 gene (PAX6) have been shown to be responsible for congenital aniridia in most patients. The purpose of the present study was to report clinical features of a Chinese family with congenital aniridia and to screen novel genetic mutations for congenital aniridia. METHODS: All members of a three-generation family underwent comprehensive ophthalmic examination, and 8 of its 25 members were diagnosed with congenital aniridia...
June 14, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29902089/22q11-2-microduplication-syndrome-and-juvenile-glaucoma
#8
Federico Di Matteo, Paolo Bettin, Giulia Ferrari, Marina Fiori, Carlo Ciampi, Emanuela Manfredini, Alessandro Rabiolo, Francesco Bandello
BACKGROUND: 22q11.2 microduplication is a relatively recently recognized syndrome. Findings in affected individuals range from apparent normality to a wide variety of systemic and ocular conditions. We describe the association between 22q11.2 microduplication and juvenile glaucoma in two brothers. MATERIALS AND METHODS: We reviewed ophthalmological, genetic, and hematological medical records of two patients and their unaffected mother. RESULTS: A 2...
June 14, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29877746/corrigendum
#9
(no author information available yet)
No abstract text is available yet for this article.
June 7, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29718797/cep250-mutations-associated-with-mild-cone-rod-dystrophy-and-sensorineural-hearing-loss-in-a-japanese-family
#10
Daiki Kubota, Kiyoko Gocho, Sachiko Kikuchi, Keiichiro Akeo, Masahiro Miura, Kunihiko Yamaki, Hiroshi Takahashi, Shuhei Kameya
BACKGROUND: CEP250 encodes the C-Nap1 protein which belongs to the CEP family of proteins. C-Nap1 has been reported to be expressed in the photoreceptor cilia and is known to interact with other ciliary proteins. Mutations of CEP250 cause atypical Usher syndrome which is characterized by early-onset sensorineural hearing loss (SNHL) and a relatively mild retinitis pigmentosa. This study tested the hypothesis that the mild cone-rod dystrophy (CRD) and SNHL in a non-consanguineous Japanese family was caused by CEP250 mutations...
May 2, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29718750/moniliform-blepharosis-in-lipoid-proteinosis-with-a-homozygous-ecm1-gene-mutation
#11
Ozlem Barut Selver, Melis Palamar, Huseyin Onay, Onur Furundaoturan, Taner Akalın, Mukaddes Aysin Noyan
No abstract text is available yet for this article.
May 2, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29693493/targeted-next-generation-sequencing-reveals-that-a-compound-heterozygous-mutation-in-phosphodiesterase-6a-gene-leads-to-retinitis-pigmentosa-in-a-chinese-family
#12
Shanshan Zhang, Jie Li, Shujin Li, Yeming Yang, Mu Yang, Zhenglin Yang, Xianjun Zhu, Lin Zhang
PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous disease with over 70 causative genes identified to date. However, approximately 40% of RP cases remain genetically unsolved, suggesting that many novel disease-causing mutations are yet to be identified. The purpose of this study is to identify the causative mutations of a Chinese RP family. METHODS: Targeted next-generation sequencing (NGS) for a total of 163 genes which involved in inherited retinal disorders were used to screen the possible causative mutations...
April 25, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29947570/identification-and-characterization-of-the-vax2-p-leu139arg-variant-possible-involvement-of-vax2-in-cone-dystrophy
#13
Giovanna Alfano, Naushin H Waseem, Andrew R Webster, Shomi S Bhattacharya
OBJECTIVE: This study was undertaken with the objective to investigate the potential involvement of VAX2 in retinal degeneration. METHODS: A cohort of macular and cone dystrophy patients (n = 70) was screened for variant identification. Polymerase chain reaction (PCR) products were purified using ExoSAP-IT. Direct sequencing of PCR products was performed using BigDye 3.1 on the ABI 3730 DNA Analyzer and analyzed using DNASTAR software tool. Search for known variant was performed using the following platforms: 1000 Genomes Project, Ensembl, UCSC, ExAc, and dbSNP...
August 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29947569/a-novel-mip-mutation-in-a-chinese-family-with-congenital-cataract
#14
Chao Yuan, Tiantian Han, Pan Su, Min Liu, Xiaopei Zhou, Dazhi Zhang, Weimin Jia, Ali Wang, Min Yue, Zibing Xiang, Liming Chen, Xianqin Zhang
PURPOSE: To identify the disease-causing gene of a four-generation Chinese family with congenital cataract. METHODS: To screen the disease-causing gene of the family, six disease genes of congenital cataract are screened by direct DNA sequencing, the cDNA of wild-type (WT) MIP gene, and P191R mutant MIP gene (MT) were constructed into pEGFP-C1 vector and pGH19 vector. The recombinant plasmids of pEGFP-C1, WT, and mutant MIP were transfected into Hela cell to check the localization and HEK293T cells to detect expression level of protein...
August 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29947568/the-association-of-matrix-metalloproteinases-polymorphisms-and-interleukins-in-advanced-age-related-macular-degeneration
#15
Brigita Budiene, Rasa Liutkeviciene, Olivija Gustiene, Rasa Ugenskiene, Danguole Laukaitiene, Aiste Savukaityte, Alvita Vilkeviciute, Rasa Steponaviciute, Aurelija Rocyte, Dalia Zaliuniene
PURPOSE: To assess the impact of matrix metalloproteinase (MMP)1-1607 1G/2G (rs1799750), MMP7-181 A/G (rs11568818) single-nucleotide polymorphism and systemic cytokins interleukin-1 beta (IL-1β), IL-6 levels on the development of exudative age-related macular degeneration (eAMD) Methodology: The study group comprised 282 patients with eAMD, and the control group enrolled 379 randomly selected persons. The genotyping of MMP1-1607 (rs1799750) and MMP7-181 (rs11568818) was performed by using the polymerase chain reaction-based restriction fragment length polymorphism method...
August 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29947567/two-year-progression-analysis-of-rpe65-autosomal-dominant-retinitis-pigmentosa
#16
Ruben Jauregui, Karen Sophia Park, Stephen H Tsang
BACKGROUND: The RPE65 gene was recently described to cause autosomal dominant retinitis pigmentosa (adRP), presenting with a phenotype resembling choroideremia. This study presents the 2-year progression of RPE65 adRP in a patient. METHODS: This is an observational case report of one patient. The patient received a full ophthalmic examination during both visits, including diagnostic imaging such as spectral domain optical coherence tomography (SD-OCT), OCT-angiography (OCT-A), short-wave fundus autofluorescence (FAF), and fundus photography...
August 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29912604/investigation-of-the-effect-of-dietary-docosahexaenoic-acid-dha-supplementation-on-macular-function-in-subjects-with-autosomal-recessive-stargardt-macular-dystrophy
#17
Ian M MacDonald, Paul A Sieving
PURPOSE: To test the effect of docosahexanoic acid (DHA) dietary supplementation on macular function in patients with Stargardt disease. MATERIALS AND METHODS: A single center, double-masked, randomized placebo-controlled trial of 11 subjects (2 males, 9 females) with Stargardt disease in a crossover design (NCT00060749). Six participants were randomized to two sequences of three month periods of DHA supplementation (2000 mg/day) followed by three months of placebo...
August 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29902095/diurnal-variations-of-foveoschisis-by-optical-coherence-tomography-in-patients-with-rs1-x-linked-juvenile-retinoschisis
#18
Maria Fernanda Abalem, David C Musch, David G Birch, Mark E Pennesi, John R Heckenlively, Thiran Jayasundera
BACKGROUND: To evaluate diurnal variations in macular schisis cavities in patients with X-linked juvenile retinoschisis (XLRS) with pathogenic variants in the RS1 gene using spectral-domain optical coherence tomography (SD-OCT). METHODS: Three consecutive patients with a clinical diagnosis of XLRS and pathogenic variants in the RS1, treated with carbonic anhydrase inhibitors (CAIs). Observational procedures: SD-OCT scans of the macula were acquired at 9 a.m., 1 p...
August 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29883260/identification-of-two-novel-compound-heterozygous-mutations-of-adgrv1-in-a-chinese-family-with-usher-syndrome-type-iic
#19
Nian Zhang, Juan Wang, Shuting Liu, Mugen Liu, Fagang Jiang
BACKGROUND: To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. MATERIALS AND METHODS: Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total of 658 genes associated with them. We screened the possible pathogenic mutation sites, used Sanger to exclude the false positive and verified whether there were co-segregated among the family members...
August 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29869924/long-term-follow-up-of-a-crb1-associated-maculopathy
#20
Dario Pasquale Mucciolo, Vittoria Murro, Dario Giorgio, Ilaria Passerini, Andrea Sodi, Gianni Virgili, Stanislao Rizzo
PURPOSE: To report a long-term follow-up of a CRB1-associated maculopathy. METHODS: A case report. RESULTS: A 47-year-old man was diagnosed with bilateral maculopathy. The clinical picture and the foveoschisis abnormalities present in the right eye were consistent with X-linked retinoschisis. During the follow-up we observed the spontaneous passage from a foveal schitic shape to a cystic profile and then to atrophic maculopathy. Two pathogenic CRB1 mutations were detected and he was subsequently diagnosed with CRB1-associated maculopathy...
August 2018: Ophthalmic Genetics
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