Ophthalmic Genetics, Volume 42, Issue 6 (2021)

Browse this journal
Sample our Medicine, Dentistry, Nursing & Allied Health journals, sign in here to start your FREE access for 14 days

Ophthalmic Genetics, Volume 42, Issue 6 (2021)

See all volumes and issues
Vol 45, 2024 Vol 44, 2023 Vol 43, 2022 Volume 42, 2021 Vol 41, 2020 Vol 40, 2019 Vol 39, 2018 Vol 38, 2017 Vol 37, 2016 Vol 36, 2015 Vol 35, 2014 Vol 34, 2013 Vol 33, 2012 Vol 32, 2011 Vol 31, 2010 Vol 30, 2009 Vol 29, 2008 Vol 28, 2007 Vol 27, 2006 Vol 26, 2005 Vol 25, 2004 Vol 24, 2003 Vol 23, 2002 Vol 22, 2001 Vol 21, 2000 Vol 20, 1999 Vol 19, 1998 Vol 18, 1997 Vol 17, 1996 Vol 16, 1995 Vol 15, 1994 Vol 14, 1993 Vol 13, 1992 Vol 12, 1991 Vol 11, 1990 Vol 10, 1989 Vol 9, 1988 Vol 8, 1987 Vol 7, 1986 Vol 6, 1985 Vol 5, 1985 Vol 4, 1984 Vol 3, 1983 Vol 2, 1983 Vol 1, 1981-1982
Download citations Download PDFs Download issue

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
Published online: 21 Jul 2021
AbstractforAssociations of TLR4 and IL-8 genes polymorphisms with age-related macular degeneration (AMD): a systematic review and meta-analysis | Full Text | References | PDF (2.1 MB) | EPUB
  • 135 Views
  • 1 CrossRef citations
  • 0Altmetric

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
Published online: 25 Jun 2021
AbstractforGenetic disease is a common cause of bilateral childhood cataract in Denmark | Full Text | References | PDF (1 MB) | EPUB | Supplemental
  • 362 Views
  • 1 CrossRef citations
  • 0Altmetric
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
Published online: 12 Jul 2021
AbstractforThe association of OPG polymorphisms with diabetic retinopathy in Chinese population | Full Text | References | PDF (335.7 KB) | EPUB | Supplemental
  • 194 Views
  • 2 CrossRef citations
  • 0Altmetric
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
Published online: 05 Jul 2021
AbstractforExpanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome | Full Text | References | PDF (9.6 MB) | EPUB
  • 568 Views
  • 10 CrossRef citations
  • 0Altmetric
Investigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing
Neslihan Duzkale & Umut Arslan
Pages: 674-684
Published online: 27 Jul 2021
AbstractforInvestigation of genotype–phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing | Full Text | References | PDF (2.5 MB) | EPUB | Supplemental
  • 393 Views
  • 0 CrossRef citations
  • 0Altmetric
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
Published online: 02 Aug 2021
AbstractforAssociation of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis | Full Text | References | PDF (329.7 KB) | EPUB
  • 85 Views
  • 0 CrossRef citations
  • 0Altmetric
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
Published online: 23 Jul 2021
AbstractforAssociation of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations | Full Text | References | PDF (415.4 KB) | EPUB
  • 251 Views
  • 2 CrossRef citations
  • 0Altmetric
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
Published online: 13 Aug 2021
AbstractforThe haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia | Full Text | References | PDF (1.2 MB) | EPUB | Supplemental
  • 135 Views
  • 5 CrossRef citations
  • 0Altmetric
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
Published online: 22 Jul 2021
AbstractforMERTK retinopathy: biomarkers assessing vision loss | Full Text | References | PDF (8.1 MB) | EPUB
  • 291 Views
  • 3 CrossRef citations
  • 0Altmetric
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
Published online: 04 Aug 2021
AbstractforGPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism | Full Text | References | PDF (7 MB) | EPUB
  • 253 Views
  • 0 CrossRef citations
  • 0Altmetric
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
Published online: 04 Aug 2021
AbstractforThe 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 | Full Text | References | PDF (1.4 MB) | EPUB
  • 205 Views
  • 4 CrossRef citations
  • 0Altmetric
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
Published online: 06 Aug 2021
AbstractforBioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma | Full Text | References | PDF (6.6 MB) | EPUB
  • 396 Views
  • 2 CrossRef citations
  • 0Altmetric

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
Published online: 20 Jul 2021
AbstractforIdentification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy | Full Text | References | PDF (652.8 KB) | EPUB
  • 131 Views
  • 3 CrossRef citations
  • 0Altmetric

Case Reports

Case Report
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
Published online: 06 Jul 2021
AbstractforA rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy | Full Text | References | PDF (2.5 MB) | EPUB
  • 264 Views
  • 1 CrossRef citations
  • 0Altmetric
Case Report
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
Published online: 12 Jul 2021
AbstractforA Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome | Full Text | References | PDF (4 MB) | EPUB
  • 272 Views
  • 1 CrossRef citations
  • 0Altmetric
Case Report
Spontaneous resolution of schitic cavities in XLRS
Thomas G. Campbell, James Elder & Jon Ruddle
Pages: 765-767
Published online: 05 Jul 2021
AbstractforSpontaneous resolution of schitic cavities in XLRS | Full Text | References | PDF (821 KB) | EPUB
  • 99 Views
  • 0 CrossRef citations
  • 0Altmetric
Case Report
Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant
Jingjing Xu, Kang Li, Bodi Zheng & Hong Dai
Pages: 768-772
Published online: 05 Sep 2021
AbstractforTreatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant | Full Text | References | PDF (9.5 MB) | EPUB | Supplemental
  • 1343 Views
  • 2 CrossRef citations
  • 0Altmetric
Open Access
Case Report
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
Published online: 26 Jul 2021
AbstractforCrystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy | Full Text | References | PDF (6.4 MB) | EPUB
  • 112 Views
  • 1 CrossRef citations
  • 0Altmetric
Case Report
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
Published online: 15 Jul 2021
AbstractforOphthalmic findings as clues for early diagnosis of Vici syndrome in a neonate | Full Text | References | PDF (2.5 MB) | EPUB
  • 131 Views
  • 0 CrossRef citations
  • 0Altmetric

Letter to the Journal

Article
Isolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation
Eva S. Lachmann, Luca Mautone & Simon Dulz
Pages: 784-786
Published online: 25 Aug 2021
First Page PreviewforIsolated juvenile macular dystrophy without posterior column ataxia associated with FLVCR1 mutation | Full Text | References | PDF (2 MB) | EPUB
  • 92 Views
  • 0 CrossRef citations
  • 0Altmetric

Letter to the Editor

Article
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
Published online: 21 Jul 2021
First Page PreviewforIncomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family | Full Text | References | PDF (1.4 MB) | EPUB
  • 69 Views
  • 0 CrossRef citations
  • 0Altmetric

Correction

Correction
Correction
Page: 790
Published online: 07 Sep 2021
CitationforCorrection | Full Text | PDF (1.2 MB) | EPUB
  • 578 Views
  • 0 CrossRef citations
  • 0Altmetric
Free Access

Explore articles

Explore the most recently published articles

Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A
Kirk A. J. Stephenson et al.
Case Report | Published online: 10 Jun 2024
Exploring the impact of Choroideremia on women with phenotypic and/or genotypic evidence of disease: insights from a global survey
Steven Bonneau et al.
Article | Published online: 7 Jun 2024
Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing
Lauren Hucko et al.
Case Report | Published online: 5 Jun 2024
Biallelic occult macular dystrophy
Noor Ghali et al.
Case Report | Published online: 4 Jun 2024
View all latest articles