New for Ophthalmic Genetics and online
NOW on Taylor & Francis Online
Case Report
Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration
Noy Ashkenazy, Jesse D. Sengillo, Prashanth G. Iyer, Catherin I. Negron, Nicolas A. Yannuzzi & Audina M. Berrocal
Pages: 1-4 | DOI: 10.1080/13816810.2022.2149816
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement
Aramis B. Torrefranca, Suzanne Marie Carmona, Alvina Pauline D. Santiago, Eva Cutiongco-Dela Paz & Michelle D. Lingao
Pages: 1-4 | DOI: 10.1080/13816810.2022.2144904
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI
Marissa M. Patel, Thomas A. Lazzarini, Joshua H. Uhr, Catherin I. Negron & Audina M. Berrocal
Pages: 1-2 | DOI: 10.1080/13816810.2022.2098988
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report
Virginia Miraldi Utz, Jared J. Ebert, Diana S. Brightman, Brittany N. Simpson, Stefanie Benoit & Robert A. Sisk
Pages: 1-4 | DOI: 10.1080/13816810.2022.2090011
Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency
Jeannette Y. Stallworth, David R. Blair, Anne Slavotinek, Anthony T. Moore, Jacque L. Duncan & Alejandra G. de Alba Campomanes
Pages: 1-5 | DOI: 10.1080/13816810.2022.2141792
Research Report
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases
Lilia T. Popova, Rebhi O. Abuzaitoun, Maria Fernanda Abalem, Chris A. Andrews, Alison M. Mondul, Gabrielle D. Lacy, David C. Musch & K. Thiran Jayasundera
Pages: 1-8 | DOI: 10.1080/13816810.2022.2144901
Ophthalmic Genetics, Volume 43, Issue 5, October 2022
is now available online on Taylor & Francis Online
Click the above image to go direct to Taylor & Francis Online
Ophthalmic Genetics Study Club 2022 HYBRID Meeting Registration
OGSC-2022-Virtual
Register now for the upcoming OGSC 2022 HYBRID Meeting to be held on Thursday, 29th September, 2022.
Ophthalmic Genetics Study Club 2022
Thursday, 29th September, 2022
This year we shall be going Hybrid. Please note you are purchasing a Virtual Registration
8:00 am and 5:00 pm USA Chicago Local Time (CDT)
We plan on FOUR presentations per hour with an hour lunch break at noon
$40.00
Ophthalmic Genetics Study Club Hybrid Meeting
Thursday, September 29th, 2022
Ophthalmic Genetics Study Club Hybrid Meeting
Thursday, September 29th, 2022
Hancock Building close walk from Children’s Hospital
875 N. Michigan Avenue, 14th Floor, Room 108
Moderators: Elias I. Traboulsi & Virginia M. Utz
This year’s meeting is dedicated to Dr. A. Linn Murphree
ALL TIMES ARE CHICAGO TIME
8:00
BREAKFAST & CATCHING UP
8:30 – 12:00 – SESSION 1
MODERATOR: ELIAS TRABOULSI
8:30 – Virtual Presentation
Expanding the spectrum of Oculocutaneous Albinism: does isolated foveal hypoplasia really exists?
Giacomo Bacci, MD, PhD (Staff), Meyer Children’s Hospital, Fi, Italy
8:45
The Management of Inherited Retinal Disease by an Ophthalmic Genetic Service: An Analysis of Provider Referral Patterns, Delays in Diagnosis and the Diagnostic Yield of Genetic Testing
Natario Couser, MD, PhD (Staff), Virginia Commonwealth University
9:00
A woman referred for evaluation of Stargardt disease
Arif Khan, MD, Cleveland Clinic AbuDhabi
9:15
The problem of monocular cases of inherited retinal disease
Scott E. Brodie, MD, NYU Langone Health
9:30
Right disease, wrong gene or wrong gene, right disease
Alex V. Levin, MD, MHSc, FAAP, FAAO, FRCSC, Flaum Eye Institute
9:45
Use of VEP in Inherited Retinal Degenerations
Arlene V. Drack, MD, University of Iowa
10:00 Virtual Presentation
Multimodal imaging characteristics and correlation with genetic profile of achromatopsia in North Indian population.profile of achromatopsia in North Indian population.
Savleen Kaur, MD, Department Of Ophthalmology, Post Graduate Institute of Medical Education and Research (PGIMER) Chandigarh, India
10:15 Virtual Presentation
Registry of 85 informative south Asian pedigrees with primary concomitant strabismus: A meta-analysis
Zia Chaudhuri, MD, LHMC & Associated Hospitals, PGIMER & Dr. RML Hospital, New Delhi, India
10:30
Repeatability of a Truncated Visual Field Protocol in Pediatric Inherited Retina Disease Patients
Mitchell Jacobs, MD, University of Kentucky
10:45
Case Presentation
Meghan DeBenedictis, CGC, MEd, Cole Eye Institute
11:00
In Honor of A. Linn Murphree
Janey Wiggs, MD, PhD, MEEI, Harvard Medical School
12:00 LUNCH
1:00 – 4:45 – SESSION 2
MODERATOR: GINNY M. UTZ
1:00
Case Presentation
Rachel Huckfeldt, MD, MEEI, Harvard Medical School
1:15 Virtual Presentation
Case Presentation
Rebecca Procopio, MD, Wills Eye Hospital
1:30 Virtual Presentation
Case Presentation
Sarah Chorfi, MD, MEEI, Harvard Medical School
1:45
Gene independent approaches to cone photoreceptor survival and rescue in rod cone dystrophies
Daniel Chung, DO, Sparing Vision
2:00
Case Presentation
Jose Pulido, MD, Wills Eye Hospital
2:15 Virtual Presentation
Off-Label Voretigene Neparvovec-rzyl for Dominant RPE65 Dystrophy
Robert Sisk, MD, University of Cincinnatti
2:30
RPE65 Gene Therapy in Saudi Arabia
Selwa Al-Hazzaa, MD, Al-Faisal University
2:45 Virtual Presentation
Variant Classification and Reporting Differences Can Lead to Variable Test Yield on Retinal Dystrophy Panels
Diana Brightman, Ph.D, MS, CGC, Cincinnati Children’s Hospital
3:00
Case Presentation
Jennifer Galvin, MD, Yale New Haven Hospital
3:15 Virtual Presentation
Genetic Causes for IRDS in Ethiopean Jews
Miriam Ehrenberg, MD, Schneider Children’s Medical Center, Israel
3:30
Brothers with optic neuropathy: LHON or not?
Lev Prasov, MD, University of Michigan
3:45
Isolated ectopia lentis in Polynesian patients
Sarah Hull, MD, Auckland Eye New Zealand
4:00
A “Spleenided Case!”
Kimberly Stepien. MS, CGC, University of Wisconsin
4:15
PIEZO1 and PIEZO2 Pathogenic Variants Identified in Primary Congenital Glaucoma
Terry Young, MD, University of Wisconsin – Madison, School of Medicine and Public Health
4:30
Case Presentation
Virginia Utz, MD, Cincinnati Children’s Hospital
4:45 – 5:00 – BUSINESS MEETING
Proposed Ophthalmic Genetics Study Club New Members for 2022: To be voted on during the business meeting.
OGSC 2022 Hybrid Meeting – Abstract Submission Form – Closed
Abstract Submission Form – Closed
Abstract Submission Deadline is Friday, 15th July
Reminder… SAVE THE DATE and ACTION REQUIRED
Ophthalmic Genetics Study Club (OGSC)
HYBRID Meeting
LIMITED in person seating to first 40 registrants ONLY
Thursday, September 29, 2022
Hancock Building close walk from Children’s Hospital
875 N. Michigan Avenue, 14th Floor, Room 108
NEED TO DO: Please let us know if you are planning to attend in person or virtually. We can only accommodate 40 in person registrants. We will make a list of the first 40 registrants. You can also send a title of your proposed presentation at this time to wongs1@ccf.org. We will let you know ASAP if you will present.
Abstract Submission Form and Virtual Registration Form below:
Elias
Vice-Chair for Education
Cole Eye Institute
Cleveland Clinic
i32, 9500 Euclid Avenue
Cleveland, OH 44195
Office: (216) 444-4363
Fax: (216) 445-2226
Cell: (216) 956-0892
Ophthalmic Genetics Study Club 2022 HYBRID Meeting Registration
OGSC-2022-Virtual
Register now for the upcoming OGSC 2022 HYBRID Meeting to be held on Thursday, 29th September, 2022.
Ophthalmic Genetics Study Club 2022
Thursday, 29th September, 2022
This year we shall be going Hybrid. Please note you are purchasing a Virtual Registration
8:00 am and 5:00 pm USA Chicago Local Time (CDT)
We plan on FOUR presentations per hour with an hour lunch break at noon
$40.00
New from Ophthalmic Genetics
Ophthalmic Genetics, Volume 42, Issue 6, December 2021 is now available online on Taylor & Francis Online.
This new issue contains the following articles:
Review
Associations of TLR4 and IL-8 genes polymorphisms with age-related macular degeneration (AMD): a systematic review and meta-analysis
Nasrin Roshanipour, Elham Shahriyari, Maryam Ghaffari Laleh, Leila Vahedi, Sousan mirjand Gerami & Amin Khamaneh
Pages: 641-649 | DOI: 10.1080/13816810.2021.1955274
Research Reports
Genetic disease is a common cause of bilateral childhood cataract in Denmark
Line Kessel, Daniella Bach-Holm, Moug Al-Bakri, Laura Roos, Allan Lund & Karen Grønskov
Pages: 650-658 | DOI: 10.1080/13816810.2021.1941128
The association of OPG polymorphisms with diabetic retinopathy in Chinese population
Huijuan Xu, Huan Li, Qian Luo, Yihui Li, Guo Huang, Chuntao Lei, Fang Hao, Jialing Xiao, Chen Yang, Man Yu, Ziyang Wang, Yi Shi, Ling Zhong, Lixin Duan, Huafu Chen, Yao Dezhong, Bo Gong & Zhenglin Yang
Pages: 659-663 | DOI: 10.1080/13816810.2021.1946702
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
Austin D. Igelman, Cristy Ku, Mariana Matioli da Palma, Michalis Georgiou, Elena R. Schiff, Byron L. Lam, Eeva-Marja Sankila, Jeeyun Ahn, Lindsey Pyers, Ajoy Vincent, Juliana Maria Ferraz Sallum, Wadih M. Zein, Jin Kyun Oh, Ramiro S. Maldonado, Joseph Ryu, Stephen H. Tsang, Michael B. Gorin, Andrew R. Webster, Michel Michaelides, Paul Yang & Mark E. Pennesi
Pages: 664-673 | DOI: 10.1080/13816810.2021.1946704
Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing
Neslihan Duzkale & Umut Arslan
Pages: 674-684 | DOI: 10.1080/13816810.2021.1952616
Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis
Gabriele Kolonaite, Alvita Vilkeviciute, Loresa Kriauciuniene, Greta Gedvilaite & Rasa Liutkeviciene
Pages: 685-690 | DOI: 10.1080/13816810.2021.1952619
Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations
Ayca Kocaaga, Gunes Cakmak Genc, Sevim Karakas Celık, Rafet Koca & Ahmet Dursun
Pages: 691-697 | DOI: 10.1080/13816810.2021.1955273
The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia
Natalya Eliseeva, Irina Ponomarenko, Evgeny Reshetnikov, Volodymyr Dvornyk & Mikhail Churnosov
Pages: 698-705 | DOI: 10.1080/13816810.2021.1955275
MERTK retinopathy: biomarkers assessing vision loss
Dhimas H. Sakti , MBBS, Elisa E. Cornish , PhD, FRANZCO, Nina Mustafic , BMSci, MOrth, Afsah Zaheer , BHSci, MOrth, Stephanie Retsas , BForBiol, MOrth, Sulekha Rajagopalan , MBBS, FRACP, Clara WT Chung , MBBS, FRACP, Lisa Ewans , MBBS, FRACP, Peter McCluskey , MD, FRANZCO, Benjamin M. Nash , BMedSci, Robyn V. Jamieson , PhD, FRACP & John R. Grigg , MD, FRANZCO
Pages: 706-716 | DOI: 10.1080/13816810.2021.1955278
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism
Junwei Zhong, Bing You, Ke Xu, Xiaohui Zhang, Yue Xie & Yang Li
Pages: 717-724 | DOI: 10.1080/13816810.2021.1958352
The relationship of retinopathy of prematurity with brain-derivated neurotrophic factor, vascular endotelial growth factor-A, endothelial PAD domain protein 1 and nitric oxide synthase 3 gene polymorphisms
Serdar Ilguy, Oguz Cilingir, Mustafa Deger Bilgec, Onur Ozalp, Ebru Erzurumluoglu Gokalp, Serap Arslan, Neslihan Tekin, Ozge Aydemir, Nazmiye Erol, Ertugrul Colak & Huseyin Gursoy
Pages: 725-731 | DOI: 10.1080/13816810.2021.1961279
Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma
Dilara Fatma Akin-Bali
Pages: 732-743 | DOI: 10.1080/13816810.2021.1961280
Mutation Report
Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy
Raffi Aprahamian, T. Yammine, N. Salem, M. Souaid, H. Mansour & C. Farra
Pages: 744-746 | DOI: 10.1080/13816810.2021.1955277
Case Reports
A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy
Elena Mermeklieva, Kunka Kamenarova, Kalina Mihova, Felitsiya Shakola & Radka Kaneva
Pages: 747-752 | DOI: 10.1080/13816810.2021.1946700
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome
Filipa G Rodrigues, Harry Petrushkin, Andrew R Webster, Maria Bickerstaff, Elena Moraitis, Dorota Rowczenio, Juan I. Aróstegui & Mark Westcott
Pages: 753-764 | DOI: 10.1080/13816810.2021.1946701
Spontaneous resolution of schitic cavities in XLRS
Thomas G. Campbell, James Elder & Jon Ruddle
Pages: 765-767 | DOI: 10.1080/13816810.2021.1946705
Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant | Open Access
Jingjing Xu, Kang Li, Bodi Zheng & Hong Dai
Pages: 768-772 | DOI: 10.1080/13816810.2021.1952617
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy
Youssr Louati, Veronika Vaclavik, Alexandre Moulin, Daniel Schorderet, Francis L. Munier & Hoai Viet Tran
Pages: 773-779 | DOI: 10.1080/13816810.2021.1952620
Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
Mohammed A. Rafei, Beena Harikrishna, Khalid Al Thihli, Abdullah S. Al-Mujaini & Anuradha Ganesh
Pages: 780-783 | DOI: 10.1080/13816810.2021.1952621
Letter to the Journal
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation
Eva S. Lachmann, Luca Mautone & Simon Dulz
Pages: 784-786 | DOI: 10.1080/13816810.2021.1970196
Letter to the Editor
Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family
Masoud Dehghan Tezerjani, Behdokht Fathi Dizaji, Zahra Metanat & Mohammad Yahya Vahidi Mehrjardi
Pages: 787-789 | DOI: 10.1080/13816810.2021.1955276
Correction
Correction
Pages: 790-790 | DOI: 10.1080/13816810.2021.1976939
Date for your diary… Ophthalmic Genetics Study Club 2021 Meeting
Thursday, November 11th, 2021
Dear Friends and Colleagues
We would like to invite you to participate in the upcoming Ophthalmic Genetics Study Club (OGSC) to precede the meeting of the American Academy of Ophthalmology.
We are deeply saddened by the loss of our dear OGSC member, friend and colleague, Marilyn Miller, MD. This year’s meeting is dedicated to her in memoriam. To that effect we have also invited Dr. Arlene Drack to give a scientific presentation to honor Dr. Miller.
This year again the meeting will be virtual and will be managed by the webmaster of ISGEDR, Geoff Cross from Harrogate, England.
The meeting will start at 9:00 am US Eastern time and will end at 4:30 pm with an hour break for lunch at noon. This will allow for 6.5 hours of presentations. We will restrict the number of presentations to four per hour, to include 10 minutes for the case/study presentation and 5 minutes for discussion. This makes for a total of 26 presentations. Priority will be given to those who have presented previously but have not reached the required three presentations to achieve full member status. Additional presentations will be selected from the remaining submitted titles.
Please note:
- Submission of titles will close on October 22nd (Friday). Please send the titles of your presentations to Sandy Wong (wongs1@ccf.org) at your earliest convenience and before the deadline.
- Presenters will be notified before October 29th of the acceptance and time of their papers.
- Registration will be open until November 7th (Sunday). You can register for the meeting through the ISGEDR website at ISGEDR.com.
- Please note that you can register whether you are presenting or not. Registration opens October 1st (Friday)
We very much look forward to another successful get together!
Ginny & Elias
Virginia M. Utz & Elias I. Traboulsi
Virtual for 2020 – Ophthalmic Genetics Study Club
Dear ISGEDR Members,
Below you can watch the recording of the recent Virtual OGSC.
Best regards.
Elias I. Traboulsi and
Virginia (Ginny) M. Utz
Going Virtual for 2020 – Ophthalmic Genetics Study Club
Dear members and friends of the OGSC,
We invite you to register and submit a title if you choose to for a presentation at the upcoming meeting to be held virtually on Saturday November 14 between 9:00 am and 5:00 pm USA Eastern Time.
We plan on 5-6 presentations per hour with a lunch break.
OGSC San Francisco 2019 – Venue and Date Announced
This year’s OGSC meeting will be on Friday, October 11, 2019 and will be held at the Westin St. Francis hotel.
OGSC Chicago 2018
More than 50 delegates attended the OGSC meeting at Lurie Children’s Hospital
and participated in the discussion of 25 scientific presentations.
2018 Ophthalmic Genetics Study Club
Our Hosts
Ophthalmic Genetics Study Club
OGSC 2016 Agenda OGSC 2015 Program OGSC 2014 Program
The 2016 Ophthalmic Genetics Study Club Meeting details are the following:
Date: Friday, October 14, 2016
Time: 8:00am – 5:00pm
Location: Ann & Robert H. Lurie Children’s Hospital 225 East Chicago Avenue
Ophthalmic Genetics – FREE Subscription
The Journal is the official publication of ISGEDR and the OGSC. Members of ISGEDR receive a free subscription to the Journal and have access to all back issues.
Click here to visit the home page of Ophthalmic Genetics on the Informa Publisher website
“Coming Soon… the 45th Meeting of the Ophthalmic Genetics Study Club”
Video Screencasts
HD Video Screencasts from Joint ISGEDR/UK-EGG Meeting
You can now enjoy nearly all the wonderful presentations from the International Meeting hosted in Leeds.
