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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/28513254/peripapillary-sparing-in-rdh12-associated-leber-congenital-amaurosis
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28481129/novel-homozygous-mutation-in-the-spata7-gene-causes-autosomal-recessive-retinal-degeneration-in-a-consanguineous-german-family
#5
Britta Feldhaus, Susanne Kohl, Konstanze Hörtnagel, Nicole Weisschuh, Ditta Zobor
No abstract text is available yet for this article.
May 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28471317/a-de-novo-puf60-mutation-in-a-child-with-a-syndromic-form-of-coloboma-and-persistent-fetal-vasculature
#6
Claudio Graziano, Elena Gusson, Giulia Severi, Federica Isidori, Anita Wischmeijer, Milena Brugnara, Marco Seri, Cesare Rossi
No abstract text is available yet for this article.
May 4, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453375/genetic-factors-influencing-the-reduction-of-central-corneal-thickness-in-disorders-affecting-the-eye
#7
Joanna Swierkowska, Marzena Gajecka
BACKGROUND: The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia. MATERIALS AND METHODS: A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453371/megalocornea-associated-with-microduplications-on-chromosome-16
#8
P Samalia, A Buller
No abstract text is available yet for this article.
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453367/retinal-pigment-epithelium-photoreceptor-layer-alterations-in-a-patient-with-sturge-weber-syndrome-with-diffuse-choroidal-hemangioma
#9
Solmaz Abdolrahimzadeh, Francesco Parisi, Flavio Mantelli, Andrea Perdicchi, Gianluca Scuderi
PURPOSE: To describe an 8-year-old girl with diagnosis of Sturge-Weber syndrome (SWS) presenting with glaucoma, abnormal iris vessels, diffuse choroidal hemangioma, and small white dot-shaped "microdrusen-like" alterations of the retina in the right eye. PATIENT AND METHODS: Complete ophthalmological examination was performed with slit-lamp anterior segment assessment and fundus ophthalmoscopy. Near infrared reflectance (NIR) and enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) were carried out...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28453362/a-novel-mutation-in-the-dominantly-inherited-topors-gene-supports-haploinsufficiency-as-the-mechanism-of-retinitis-pigmentosa
#10
Marta Latasiewicz, Anna Paola Salvetti, Robert E MacLaren
BACKGROUND: Inherited retinal degenerations are a major cause of untreatable blindness in the younger age group. Recent advances in gene therapy using adeno-associated viral (AAV) vectors have raised the possibility of slowing or stopping retinal degenerations with gene replacement in cases of gene deficiency. MATERIALS AND METHODS: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28394650/diagnosed-cataracts-in-patients-with-cystic-fibrosis-in-a-united-states-administrative-database
#11
Nicholas J Everage, Yan Bai, Brett Loop, Nataliya Volkova, Nan Liu, Cheryl Enger
BACKGROUND: We estimated the incidence and prevalence of diagnosed cataracts among patients with cystic fibrosis (CF) versus the general population (GP). METHODS: Using a large US health insurance claims database, we identified a CF cohort and a GP cohort matched with respect to age, gender, and calendar year. The prevalence and incidence of diagnosed cataract (primary outcome) for both cohorts were calculated, as well as the incidence rate ratios (IRRs). RESULTS: The prevalence of diagnosed cataracts among patients with CF alive and enrolled in the health plan on August 31, 2012 was 4...
April 10, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28394649/adamtsl4-assessment-in-ectopia-lentis-reveals-a-recurrent-founder-mutation-in-polynesians
#12
Katherine A van Bysterveldt, Rasha Al Taie, Will Ikink, Verity F Oliver, Andrea L Vincent
BACKGROUND: To clinically characterize a cohort of patients with ectopia lentis (EL), or Marfanoid features in whom a definite genetic diagnosis of Marfan syndrome (MFS) had been excluded (atypical MFS), and to evaluate the contribution of mutations in ADAMTSL4 (OMIM * 610113), and P3H2 (LEPREL1; OMIM * 610341) to disease in this population. MATERIALS AND METHODS: Subjects underwent comprehensive ophthalmic examination, including keratometry. Mutational analysis of ADAMTSL4 and P3H2 was undertaken using PCR, high resolution melting analysis, and sequencing...
April 10, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28388263/reversal-of-cystoid-macular-edema-in-gyrate-atrophy-patients
#13
Dan Heller, Chen Weiner, Iris Nasie, Yair Anikster, Yuval Landau, Tal Koren, Russell Pokroy, Adi Abulafia, Eran Pras
PURPOSE: This study reports the presentation of two families with gyrate atrophy (GA). The aim of this study was to characterize the potential effect of therapeutic regimens on macular edema. METHODS: Two unrelated patients with GA were studied for the potential effect of low protein diet (≤ 0.8 g/kg/d), and oral administration of pyridoxine (500 mg/day), on serum ornithine levels, best corrected visual acuity (BCVA), slit-lamp, OCT, and auto-fluorescence findings...
April 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28388261/a-novel-likely-pathogenic-variant-in-the-rab28-gene-in-a-korean-patient-with-cone-rod-dystrophy
#14
Ga-In Lee, Chung Lee, Sam Subramanian, Nayoung K D Kim, Chang-Seok Ki, Woong-Yang Park, Byoung Joon Kim, Sang Jin Kim
No abstract text is available yet for this article.
April 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28388256/intrafamilial-variability-in-syndromic-microphthalmia-type-5-caused-by-a-novel-variation-in-otx2
#15
Puneeth H Somashekar, Anju Shukla, Katta M Girisha
BACKGROUND: Anophthalmia/microphthalmia/coloboma (MAC) spectrum encompasses the most severe malformations of the eye. Together, they have an incidence of 2 in 10,000 births and can be unilateral or bilateral. These disorders are genetically heterogeneous. MATERIALS AND METHODS: We ascertained a large three-generation family with multiple members showing variable phenotypes of syndromic microphthalmia. Exome sequencing was performed for the proband and his affected maternal aunt...
April 7, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28323501/microarray-based-analysis-of-gene-expression-profiles-in-peripheral-blood-of-patients-with-acute-primary-angle-closure
#16
Jin Wook Jeoung, Jung Hwa Ko, Yu Jeong Kim, Yong Woo Kim, Ki Ho Park, Joo Youn Oh
BACKGROUND: We investigated the expression of molecules in peripheral blood mononuclear cells (PBMCs) and plasma of patients with acute primary angle closure (APAC). MATERIALS AND METHODS: Peripheral blood was collected from patients with APAC (n = 10) and age-matched controls (n = 5). The gene transcription profile was analyzed in PBMCs using microarrays and validated by real-time reverse transcription polymerase chain reaction (RT-PCR). The levels of secreted proteins were evaluated in plasma by ELISA...
March 21, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28306364/white-orbital-mass-after-enucleation-for-retinoblastoma-the-power-of-illusion
#17
Sameh E Soliman, William Halliday, Furqan Shaikh, Helen Chan, Elise Hèon, Brenda L Gallie
No abstract text is available yet for this article.
March 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27484007/corrigendum
#18
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27268268/retinal-features-in-mulvihill-smith-syndrome
#19
Pallavi Tyagi, Zain Juma, Aravind R Reddy
BACKGROUND: Mulvihill-Smith syndrome is a rare progeroid syndrome of sporadic nature. Previously reported ophthalmological findings include astigmatism, myopia, endothelial dystrophy, keratoconus, cataract, band keratopathy, meibomian gland dysfunction, dry eye disease, amblyopia, and allergic conjunctivitis. MATERIALS AND METHODS: The proband, a 25-year-old male subject diagnosed with Mulvihill-Smith syndrome in childhood developed retinal changes with onset of adulthood...
March 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27268095/cyp1b1-mutational-screening-in-a-portuguese-cohort-of-primary-congenital-glaucoma-patients
#20
M J Simões, S Carmona, R Roberts, G Wainwright, C Faro, E Silva, C Egas
No abstract text is available yet for this article.
March 2017: Ophthalmic Genetics
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