Ophthalmic Genetics, Volume 42, Issue 2 (2021)

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Ophthalmic Genetics, Volume 42, Issue 2 (2021)

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Reviews

Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review
Chong Kun Cheon, Hee Young Choi, Su Hwan Park, Jae Ho Jung & Su Jin Kim
Pages: 101-104
Published online: 18 Dec 2020
AbstractforOcular manifestations in kabuki syndrome: A report of 10 cases and literature review | Full Text | References | PDF (1.6 MB) | EPUB
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Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review
Liyan Xu, Yajie Sun, Kaili Yang, Dongqing Zhao, Yiqiang Wang & Shengwei Ren
Pages: 105-109
Published online: 11 Jan 2021
AbstractforNovel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review | Full Text | References | PDF (2.7 MB) | EPUB | Supplemental
  • 161 Views
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The evolving role of genetics in ophthalmology
Natario L. Couser, Brian P. Brooks, Arlene V. Drack & Suma P. Shankar
Pages: 110-113
Published online: 12 Jan 2021
AbstractforThe evolving role of genetics in ophthalmology | Full Text | References | PDF (2.3 MB) | EPUB
  • 458 Views
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Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis
Avinash M. Veerappa
Pages: 114-131
Published online: 08 Feb 2021
AbstractforCascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis | Full Text | References | PDF (1.9 MB) | EPUB
  • 267 Views
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Research Reports

Ultrastructural and immunofluorescence analysis of anterior lens capsules in autosomal recessive Alport syndrome
Jiayue Zhou, Jing Wu, Qichuan Yin, Xiaoning Yu, Yilei Cui, Hao Yang & Xingchao Shentu
Pages: 132-138
Published online: 29 Nov 2020
AbstractforUltrastructural and immunofluorescence analysis of anterior lens capsules in autosomal recessive Alport syndrome | Full Text | References | PDF (5.6 MB) | EPUB
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A new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family.
Yinhui Yu, Jingjie Xu, Yue Qiao, Jinyu Li & Ke Yao
Pages: 139-143
Published online: 04 Dec 2020
AbstractforA new heterozygous mutation in the stop codon of CRYAB (p.X176Y) is liable for congenital posterior pole cataract in a Chinese family. | Full Text | References | PDF (3.6 MB) | EPUB
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Long-term follow-up of a Chinese patient with KCNV2-retinopathy
Hongxuan Lie, Gang Wang, Xiao Liu, Xiaohong Meng, Yanling Long, Jiayun Ren, Lizhu Yang, Yu Fujinami-Yokokawa, Toshihide Kurihara, Kazuo Tsubota, Kaoru Fujinami & Shiying Li
Pages: 144-149
Published online: 29 Dec 2020
AbstractforLong-term follow-up of a Chinese patient with KCNV2-retinopathy | Full Text | References | PDF (3.7 MB) | EPUB | Supplemental
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Open Access
Living with Stargardt disease: insights from patients and their parents
Aude Roborel de Climens, Béatrice Tugaut, Carla Dias Barbosa, Ronald Buggage & Catherine Brun-Strang
Pages: 150-160
Published online: 11 Dec 2020
AbstractforLiving with Stargardt disease: insights from patients and their parents | Full Text | References | PDF (927.6 KB) | EPUB
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Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
Ulrika Kjellström, Susanne Martell, Cecilia Brobeck & Sten Andréasson
Pages: 161-169
Published online: 27 Dec 2020
AbstractforAutosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene | Full Text | References | PDF (5.3 MB) | EPUB
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Clinical trial design for neuroprotection in RHO autosomal dominant retinitis pigmentosa; outcome measure considerations
Benjamin Otte, Chris Andrews, Gabrielle Lacy, Kari Branham, David C. Musch & Kanishka T. Jayasundera
Pages: 170-177
Published online: 06 Jan 2021
AbstractforClinical trial design for neuroprotection in RHO autosomal dominant retinitis pigmentosa; outcome measure considerations | Full Text | References | PDF (2.9 MB) | EPUB
  • 159 Views
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Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa
Moustafa Magliyah, Abdulaziz A. Alshamrani, Patrik Schatz, Ibrahim Taskintuna, Yahya Alzahrani & Sawsan R. Nowilaty
Pages: 178-185
Published online: 13 Jan 2021
AbstractforClinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa | Full Text | References | PDF (4.1 MB) | EPUB | Supplemental
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Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome
Daphna Prat, William R. Katowitz, Alanna Strong & James A. Katowitz
Pages: 186-188
Published online: 03 Jan 2021
AbstractforOcular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome | Full Text | References | PDF (930.1 KB) | EPUB
  • 178 Views
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Association of relative leukocyte telomere length and genetic variants in telomere-related genes (TERT, TERT-CLPTM1, TRF1, TNKS2, TRF2) with atrophic age-related macular degeneration
Mantas Banevicius, Greta Gedvilaite, Alvita Vilkeviciute, Loresa Kriauciuniene, Reda Zemaitiene & Rasa Liutkeviciene
Pages: 189-194
Published online: 10 Feb 2021
AbstractforAssociation of relative leukocyte telomere length and genetic variants in telomere-related genes (TERT, TERT-CLPTM1, TRF1, TNKS2, TRF2) with atrophic age-related macular degeneration | Full Text | References | PDF (679.2 KB) | EPUB | Supplemental
  • 198 Views
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Mutation Reports

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3
Christiane Al-Haddad, Rose-Mary Boustany, Elza Rachid, Karine Ismail, Brenda Barry, Wai-Man Chan & Elizabeth Engle
Pages: 195-199
Published online: 29 Nov 2020
AbstractforKIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3 | Full Text | References | PDF (3 MB) | EPUB
  • 216 Views
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Novel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR)
William Carrera, Caleb Ng, Caroline Desler, J. Michael Jumper & Anita Agarwal
Pages: 200-203
Published online: 10 Dec 2020
AbstractforNovel FZD4 and LRP5 mutations in a small cohort of patients with familial exudative vitreoretinopathy (FEVR) | Full Text | References | PDF (279 KB) | EPUB
  • 252 Views
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Case Reports

Case Report
A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female
Moustafa Magliyah, Abrar K. Alsalamah, Majeedah AlOtaibi & Sawsan R. Nowilaty
Pages: 204-208
Published online: 26 Nov 2020
AbstractforA novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female | Full Text | References | PDF (6.6 MB) | EPUB
  • 106 Views
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Case Report
Long-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral-domain optical coherence tomography: a review of the literature and a report of a case
Solmaz Abdolrahimzadeh, Martina Formisano, Luca Scuderi & Siavash Rahimi
Pages: 209-215
Published online: 17 Nov 2020
AbstractforLong-term follow-up of adult patient with neurofibromatosis type 1 with retinal astrocytic hamartoma using spectral-domain optical coherence tomography: a review of the literature and a report of a case | Full Text | References | PDF (8.8 MB) | EPUB
  • 199 Views
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Case Report
A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor
Katherine T. Lind, Nicholas G. Cost, Kelsey Zegar, Susan A. Kuldanek, Robert W. Enzenauer & Kami W. Schneider
Pages: 216-217
Published online: 10 Dec 2020
AbstractforA rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor | Full Text | References | PDF (189.2 KB) | EPUB
  • 227 Views
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Case Report
Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome
Francesco Romano, Astrit Dautaj, Raffaele Antonio Esposito, Matteo Bertelli, Giovanni Staurenghi & Anna Paola Salvetti
Pages: 218-221
Published online: 03 Jan 2021
AbstractforMultimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome | Full Text | References | PDF (5.6 MB) | EPUB
  • 190 Views
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