Ophthalmic Genetics, Volume 43, Issue 6 (2022)

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Ophthalmic Genetics, Volume 43, Issue 6 (2022)

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Special Issue: Festschrift: Dedicated to the life and work of A. Linn Murphree, MD

Obituary

Obituary
A. Linn Murphree, MD: the Mississippi man who conquered retinoblastoma and changed the fate of patients and their families
Jesse Berry, Elias I. Traboulsi & Francis Munier
Pages: 729-730
Published online: 25 Jan 2023
CitationforA. Linn Murphree, MD: the Mississippi man who conquered retinoblastoma and changed the fate of patients and their families | Full Text | PDF (910.4 KB) | EPUB
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Free Access

Reviews

Review
Cell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture
David H. Abramson
Pages: 731-735
Published online: 05 Apr 2022
AbstractforCell Free DNA (cfDNA) in the Blood of Retinoblastoma Patients The Robert M. Ellsworth Lecture | Full Text | References | PDF (1.3 MB) | EPUB
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Open Access

Research Report

Report
Iris melanoma outcomes based on the Cancer Genome Atlas (TCGA) classification in 78 consecutive patients
Elliot Cherkas, Guy S. Negretti, Jennifer S. Zeiger & Carol L. Shields
Pages: 736-741
Published online: 03 Nov 2022
AbstractforIris melanoma outcomes based on the Cancer Genome Atlas (TCGA) classification in 78 consecutive patients | Full Text | References | PDF (1.9 MB) | EPUB
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Report
Relationship between Fitzpatrick Skin Type and The Cancer Genome Atlas Classification with Melanoma-Related Metastasis and Death in 854 Patients at a Single Ocular Oncology Center
Mrittika Sen, Kevin R. Card, G. Brandon Caudill, Nina R. Spitofsky, Philip W. Dockery, Alexandra R. Zaloga, Jennifer S. Zeiger, Charles F. DeYoung, Samara J. Hamou & Carol L. Shields
Pages: 742-755
Published online: 11 Nov 2022
AbstractforRelationship between Fitzpatrick Skin Type and The Cancer Genome Atlas Classification with Melanoma-Related Metastasis and Death in 854 Patients at a Single Ocular Oncology Center | Full Text | References | PDF (2.3 MB) | EPUB
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Report
Ruthenium plaque radiotherapy in the current era of retinoblastoma treatment
Guy S. Negretti, Hibba Quhill, Catriona Duncan, Tanzina Chowdhury, Ian Stoker, M. Ashwin Reddy & Mandeep S. Sagoo
Pages: 756-761
Published online: 01 Nov 2022
AbstractforRuthenium plaque radiotherapy in the current era of retinoblastoma treatment | Full Text | References | PDF (1.9 MB) | EPUB
  • 140 Views
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Report
Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma
Kenji Nakamichi, Andrew Stacey & Debarshi Mustafi
Pages: 762-770
Published online: 03 Nov 2022
AbstractforTargeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma | Full Text | References | PDF (4.6 MB) | EPUB
  • 371 Views
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Report
Identification of novel genes by targeted exome sequencing in Retinoblastoma
Shilpa Bisht, Bhavna Chawla, Amit Kumar, Viswanathan Vijayan, Manoj Kumar, Pradeep Sharma & Rima Dada
Pages: 771-788
Published online: 05 Aug 2022
AbstractforIdentification of novel genes by targeted exome sequencing in Retinoblastoma | Full Text | References | PDF (9.1 MB) | EPUB | Supplemental
  • 246 Views
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Report
Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma
Ola M. Eid, Hosam El Zomor, Amal M. Mohamed, Hala T. El-Bassyouni, Hanan H. Afifi, Moatasem El-Ayadi, Sherin H. Sadek, Saida A. Hammad, Sherine I. Salem, Rana Mahrous, Islam M. Fadel, Khaled Refaat, Mahmoud A. Afifi, Abdallah E. Shelil, Othman A. O. Ziko, Amira A. Abdel Azeem & Alaa El-Haddad
Pages: 789-794
Published online: 13 Sep 2022
AbstractforMultiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma | Full Text | References | PDF (7.2 MB) | EPUB
  • 111 Views
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Report
Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients
Yan Zhang, Wen-Bin Wei, Junyang Zhao, Xiaolin Xu & Fufeng Wang
Pages: 795-805
Published online: 08 Aug 2022
AbstractforSpectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients | Full Text | References | PDF (1.5 MB) | EPUB
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Report
Biochemical measures of ovarian function in female survivors of retinoblastoma treated with intra-arterial melphalan: an initial report
Priya H. Marathe, Ira J. Dunkel, Jasmine H. Francis, Zoltan Antal, Y. Pierre Gobin, David H. Abramson & Danielle N. Friedman
Pages: 806-808
Published online: 25 Jan 2023
AbstractforBiochemical measures of ovarian function in female survivors of retinoblastoma treated with intra-arterial melphalan: an initial report | Full Text | References | PDF (249.2 KB) | EPUB
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Report
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity
Richard Holt, David Goudie, Alejandra Damián Verde, Alice Gardham, Francis Ramond, Audrey Putoux, Ajoy Sarkar, Virginia Clowes, Jill Clayton-Smith, Siddharth Banka, Laura Cortazar Galarza, Gilles Thuret, Marta Ubeda Erviti, Ane Zurutuza Ibarguren, Raquel Sáez Villaverde, Alejandra Tamayo Durán, Carmen Ayuso, Dorine A Bax, Julie Plaisancie, Marta Corton, Nicolas Chassaing, Patrick Calvas & Nicola K Ragge
Pages: 809-816
Published online: 25 Jan 2023
AbstractforIndividuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity | Full Text | References | PDF (2.7 MB) | EPUB
  • 1241 Views
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Open Access
Report
Foveal hypoplasia in parents of patients with albinism
R. Lejoyeux, A-S Alonso, J. Lafolie, V. Michaud, E. Lasseaux, V. Vasseur, S. Derrien, M. P. Robert, Y. Le Mer, R. Tadayoni, B. Arveiler & M. Mauget-Faÿsse
Pages: 817-823
Published online: 13 Sep 2022
AbstractforFoveal hypoplasia in parents of patients with albinism | Full Text | References | PDF (3 MB) | EPUB
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Report

Report
Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series
Tomas S. Aleman, Erin C. O’Neil, Katherine E. Uyhazi, Kelsey M. Parchinski, Arlene J. Santos, Mariejel L. Weber, Sherice P. Colclough, Andrew S. Billek, Xiaosong Zhu, Bart P. Leroy & Emma C. Bedoukian
Pages: 824-833
Published online: 05 Dec 2022
AbstractforFleck-like lesions in CEP290-associated leber congenital amaurosis: a case series | Full Text | References | PDF (12.7 MB) | EPUB | Supplemental
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Research Report

Report
Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence
Matthew W. Russell, Justin C. Muste, Kanika Seth, Madhukar Kumar, Collin A. Rich, Rishi P. Singh & Elias I. Traboulsi
Pages: 834-840
Published online: 16 Nov 2022
AbstractforFunctional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence | Full Text | References | PDF (1.8 MB) | EPUB | Supplemental
  • 379 Views
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Report
Visual outcome, ocular findings, and visual quality of life in patients with Fabry disease
Mattias Nilsson, Hani Tavakoli Kolagari, David Epstein, Branka Samolov, Monica Olsson, Karin Naess, Mikael Oscarson & Kristina Teaer Fahnehjelm
Pages: 841-849
Published online: 03 Nov 2022
AbstractforVisual outcome, ocular findings, and visual quality of life in patients with Fabry disease | Full Text | References | PDF (4.3 MB) | EPUB
  • 1006 Views
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Open Access

Case Report

Case Report
Retinal and optic nerve relapse in retinoblastoma secondary to epiretinal and epipapillary vitreous seeds implantation documented by optical coherence tomography
Christina Stathopoulos, Devjyoti Tripathy, Alexandre Moulin, Maja Beck-Popovic & Francis L. Munier
Pages: 850-854
Published online: 03 Nov 2022
AbstractforRetinal and optic nerve relapse in retinoblastoma secondary to epiretinal and epipapillary vitreous seeds implantation documented by optical coherence tomography | Full Text | References | PDF (8.4 MB) | EPUB
  • 851 Views
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Open Access
Case Report
Malignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA
Sarah Pike, Rahul Iyengar, Chen-Ching Peng, Patricia Chevez-Barrios, Brianne Brown, Rachana Shah, Jaclyn Biegel, Venkata Yellapantula, Aaron Nagiel, Bibiana Jin Reiser, Liya Xu & Jesse L. Berry
Pages: 855-861
Published online: 31 Oct 2022
AbstractforMalignant teratoid intraocular ciliary body medulloepithelioma in a 5-year-old male with corresponding somatic copy number alteration profile of aqueous humor cell-free DNA | Full Text | References | PDF (7.3 MB) | EPUB
  • 138 Views
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Case Report
A typical anterior retinoblastoma: diagnosis by aqueous humor cell-free DNA analysis
Stephanie N. Kletke, Sameh Soliman, Hilary Racher, Ashwin Mallipatna, Furqan Shaikh, Kamiar Mireskandari & Brenda L. Gallie
Pages: 862-865
Published online: 03 Nov 2022
AbstractforA typical anterior retinoblastoma: diagnosis by aqueous humor cell-free DNA analysis | Full Text | References | PDF (3.7 MB) | EPUB
  • 189 Views
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Case Report
Chromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma
Shreya Sirivolu, Liya Xu, Mikako Warren, Rishvanth K. Prabakar, Rachana Shah, Peter Kuhn, James Hicks & Jesse L. Berry
Pages: 866-870
Published online: 07 Nov 2022
AbstractforChromosome 6p amplification detected in blood cell-free DNA in advanced intraocular retinoblastoma | Full Text | References | PDF (2.9 MB) | EPUB
  • 109 Views
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Case Report
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1
Nathália Nishiyama Tondelli, Beatriz Mello Mencaroni, Carolina Maria Barbosa Lemos, Jefferson Rocha de Sousa, Gabriel Castilho Sandoval Barbosa, André Marcelo Vieira Gomes & Mariana Matioli da Palma
Pages: 871-875
Published online: 25 Jan 2023
AbstractforA patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1 | Full Text | References | PDF (2.3 MB) | EPUB | Supplemental
  • 109 Views
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Case Report
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations
Line Kessel, Mette Bertelsen & Karen Grønskov
Pages: 876-881
Published online: 31 Oct 2022
AbstractforRBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations | Full Text | References | PDF (3.2 MB) | EPUB
  • 226 Views
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