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Ophthalmic Genetics

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https://www.readbyqxmd.com/read/29336632/m%C3%A3-bius-syndrome-with-cardiac-rhabdomyomas
#1
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
BACKGROUND: Möbius syndrome is a rare congenital condition which presents not merely with 6th and 7th nerve palsies, but involves gaze paresis associated with craniofacial, limb, and other abnormalities. Heterogeneity is well known in patients with Möbius syndrome and rather than being of familial inheritance based on rare cases, it is much more recognized as a sporadic syndrome. We report an infant with features of congenital Möbius syndrome associated with cardiac rhabdomyomas in the absence of tuberous sclerosis...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29336629/pupillary-manifestations-of-marfan-syndrome-from-the-marfan-eye-consortium-of-chicago
#2
Sanket S Shah, Sudhi P Kurup, Hantamalala Ralay Ranaivo, Rebecca B Mets-Halgrimson, Marilyn B Mets
BACKGROUND: Marfan syndrome (MFS) is a genetic disorder that affects multiple organ systems, including the eye. The most common ocular manifestations include ectopia lentis and retinal detachment. The current literature qualitatively cites that MFS patients have miotic or "poorly dilating" pupils. This study was the first to quantitatively assess pupillary function in MFS patients. MATERIALS AND METHODS: 57 eyes from 29 MFS patients, 36 eyes from 18 pediatric age- and gender-matched controls, and 44 eyes from 22 adult age-matched controls were measured in a clinic-based cross sectional study...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29336617/incidental-neuroblastoma-with-bilateral-retinoblastoma-what-are-the-chances
#3
Kelsey Roelofs, Furqan Shaikh, William Astle, Brenda L Gallie, Sameh E Soliman
A child with bilateral familial retinoblastoma underwent staging MRI brain and orbit which identified subtle leptomeningeal enhancement, thus prompting an MRI whole body, which revealed a retroperitoneal mass, confirmed on laparoscopic biopsy to be neuroblastoma. This is the first reported case of these two rare embryonal non-central nervous system tumors occurring concurrently. The cause of this concurrence is unknown despite their pathogenic similarities with a chance of 4 cases per 10 billion children aged 1-4 years...
January 16, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29333905/linear-nevus-sebaceous-syndrome-presenting-as-circumscribed-choroidal-hemangioma
#4
Jose J Echegaray, Rachel Chen, Claudine Bellerive, Arun D Singh
A 4-year-old female with a unilateral circumscribed choroidal hemangioma and secondary total exudative retinal detachment. A nasal skin scar-like lesion incised to confirm a histopathologic diagnosis of linear nevus sebaceous. Further imaging disclosed asymmetry of the lateral ventricle frontal horns, suggestive of the diagnosis of linear nevus sebaceous syndrome. The choroidal hemangioma was treated with I-125 episcleral brachytherapy (apical dose of 45 Gy). At 6 months post-radiation, the tumor showed regression with total resolution of exudative retinal detachment...
January 15, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29303385/achromatopsia-clinical-features-molecular-genetics-animal-models-and-therapeutic-options
#5
Nashila Hirji, Jonathan Aboshiha, Michalis Georgiou, James Bainbridge, Michel Michaelides
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly disabling, and there is no cure currently available. However, the recent development of gene-based interventions may lead to improved outcomes in the future. This article aims to provide a comprehensive review of the clinical features of the condition, its genetic basis and the underlying pathogenesis. We also explore the insights derived from animal models, including the implications for gene supplementation approaches...
January 5, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29286867/lack-of-correlation-between-age-at-diagnosis-and-rb1-mutations-for-unilateral-retinoblastoma-the-importance-of-genetic-testing
#6
Jesse L Berry, Laura Lewis, Emily Zolfaghari, Sarah Green, Bao Han A Le, Thomas C Lee, A Linn Murphree, Jonathan W Kim, Rima Jubran
No abstract text is available yet for this article.
December 29, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29283788/investigating-the-disease-association-of-ush2a-p-c759f-variant-by-leveraging-large-retinitis-pigmentosa-cohort-data
#7
Mariana DuPont, Evan M Jones, Mingchu Xu, Rui Chen
No abstract text is available yet for this article.
December 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29265947/dna-methylation-at-the-9p21-glaucoma-susceptibility-locus-is-associated-with-normal-tension-glaucoma
#8
Kathryn P Burdon, Mona S Awadalla, Paul Mitchell, Jie Jin Wang, Andrew White, Miriam C Keane, Emmanuelle Souzeau, Stuart L Graham, Ivan Goldberg, Paul R Healey, John Landers, Richard A D Mills, Stephen Best, Alex W Hewitt, Shiwani Sharma, Jamie E Craig
PURPOSE: Recent genome-wide association studies reported strong association of genetic variation at the CDKN2B/CDKN2B-AS1 locus on 9p21 with normal-tension glaucoma (NTG) in multiple populations. The mechanism by which this locus causes disease remains to be elucidated. We investigated the association of DNA methylation of CpG islands at this locus with NTG. METHODS: We conducted a retrospective case-control study of 178 NTG cases and 202 unaffected controls from Australia...
December 21, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29261364/tp53-codon-72-polymorphism-and-the-risk-of-glaucoma-in-a-north-indian-cohort-a-genetic-association-study
#9
Shashank Gupta, Souradip Chatterjee, Abhishek Chandra, Om Prakash Singh Maurya, Ravindra Nath Mishra, Ashim Mukherjee, Mousumi Mutsuddi
BACKGROUND: The TP53 codon 72 Proline-Arginine polymorphism (TP53 P72R) is the most widely studied candidate among those evaluated for a putative association between impaired apoptosis and glaucoma. Considering the earlier findings about enhanced apoptotic potential by the Arg variant of TP53 P72R and the conflicting results about its association with glaucoma, we initiated a hospital-based case-control association study in a north Indian cohort to investigate the association of TP53 P72R with glaucoma...
December 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29244539/genotype-phenotype-variability-of-retinal-manifestation-in-primary-hyperoxaluria-type-1
#10
S Dulz, E Bigdon, Y Atiskova, F Schuettauf, R Cerkauskiene, J Oh, F Brinkert
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare congenital metabolic disorder of the glyoxylate pathway, which manifests with nephrocalcinosis, urolithiasis, and end-stage renal failure (ESRD) as well as deposition of oxalate crystals within ocular tissues. This report demonstrates classical ocular features of PH1 of the posterior pole and furthermore highlights the ocular genotype-phenotype variability among siblings with identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations...
December 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29220607/case-of-cone-dystrophy-with-normal-fundus-appearance-associated-with-biallelic-poc1b-variants
#11
Azusa Kominami, Shinji Ueno, Taro Kominami, Ayami Nakanishi, Yasuki Ito, Kaoru Fujinami, Kazushige Tsunoda, Takaaki Hayashi, Sachiko Kikuchi, Shuhei Kameya, Takeshi Iwata, Hiroko Terasaki
BACKGROUND: Biallelic variants of POC1B were recently reported to cause autosomal recessive non-syndromic cone dystrophy. However, the number of studies supporting this is limited, and the clinical phenotypes of cone dystrophy have not been definitively determined. The purpose of this study was to report the phenotype of a case of POC1B-associated cone dystrophy. MATERIALS AND METHODS: The medical chart of one case diagnosed with cone dystrophy was reviewed. RESULTS: The patient was a 20-year-old Japanese man whose chief complaint was a progressive decrease in his central vision...
December 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#12
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
December 4, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29192808/a-splice-site-variant-in-flvcr1-produces-retinitis-pigmentosa-without-posterior-column-ataxia
#13
Imran H Yusuf, Morag E Shanks, Penny Clouston, Robert E MacLaren
FLVCR1 (feline leukemia virus subgroup c receptor 1) is a transmembrane protein involved in the trafficking of intracellular heme. Homozygous variants in FLVCR1 have been described in association with a clinical syndrome of posterior column ataxia with retinitis pigmentosa (PCARP). Here, we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in FLVCR1 (c.1092 + 5G>A) without evidence of posterior column ataxia or cerebellar degeneration. We suggest an association between intronic splice-site variants in FLVCR1 and the absence of posterior column degeneration and suggest a hypothesis to explain this observation...
December 1, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29182461/diagnosis-of-multiple-endocrine-neoplasia-type-2b-and-management-of-its-ocular-features
#14
Elke O Kreps, Isabelle Van Herzeele, Bert L Callewaert
BACKGROUND: To describe ocular and vascular findings in a patient with multiple endocrine neoplasia type 2B. MATERIALS AND METHODS: Case report of a 31-year-old male who was referred for ocular assessment following diagnosis of a carotid artery dissection and multiple vascular anomalies. RESULTS: Clinical examination revealed a marfanoid habitus, myelinated corneal nerve fibers, neuromas in the perilimbal area, conjunctival hyperemia with peripheral corneal neovascularization, and posterior blepharitis...
November 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29182429/the-relationship-between-methylenetetrahydrofolate-reductase-c677t-polymorphism-and-diabetic-retinopathy-a-meta-analysis-in-multiethnic-groups
#15
Da Chen, Jihong Wang, Zengrenqing Dan, Xi Shen, Danyangji Ci
BACKGROUND: Many studies have analyzed the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and diabetic retinopathy (DR), however, the results remained inconclusive. We therefore aim to address this association by performing a meta-analysis in multiethnic groups. METHODS: Related studies were identified from PubMed and Chinese databases up to October 2016. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of the associations...
November 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29172911/response-to-galvis-et-al-s-myopia-rates-in-a-genetically-isolated-population
#16
Sarah M Hilkert, Reut Parness-Yossifon, Rebecca Mets-Halgrimson, Marilyn B Mets
No abstract text is available yet for this article.
November 27, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29172845/temporal-retinal-thinning-and-the-diagnosis-of-alport-syndrome-and-thin-basement-membrane-nephropathy
#17
Yan Chen, Deb Colville, Francesco Ierino, Andrew Symons, Judy Savige
BACKGROUND AND OBJECTIVES: Alport syndrome is an inherited disease characterized by renal failure, hearing loss, and ocular abnormalities, including temporal retinal thinning. This study compared retinal thinning in Alport syndrome and other renal diseases. METHODS: Alport syndrome was diagnosed on renal biopsy and genetic testing. Subjects underwent optical coherence tomography (OCT) (Spectralis OCT, Heidelberg Instruments). Retinal thinning was determined from horizontal macular OCT scans through the foveal center using the formula: Temporal thickness index (TTI) = (nasal - temporal thickness) ÷ nasal thickness × 100%, and compared with the normal range for each age group...
November 27, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29172844/myopia-rates-in-a-genetically-isolated-population
#18
Virgilio Galvis, Alejandro Tello, Luz María Gomez, Johana Otero
No abstract text is available yet for this article.
November 27, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29161159/unilateral-coats-like-disease-and-an-intragenic-deletion-in-the-terc-gene-a-case-report
#19
G Peene, E Smets, E Legius, C Cassiman
We report a case of a 25-year-old woman with unilateral Coats'-like disease. Her brother was previously diagnosed with an autosomal dominant form of dyskeratosis congenita. Genetic testing was performed by screening the TERC gene for mutations and identified heterozygosity for the n.68_124del mutation. Our case demonstrates that the exudative retinopathy seen in Coats'-like disease can be caused by mutations in a telomere-capping gene TERC as a part of the dyskeratosis congenita spectrum without other systemic involvement...
November 21, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#20
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
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