Works in Ophthalmic Genetics, 2021, Vol 42, Issue 3

Results: 23

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.

Published in:

2021

By:

Doğan, Mustafa;
Eröz, Recep;
Öztürk, Emrah

Publication type:

Report

Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 317, doi. 10.1080/13816810.2021.1881982

By:

Magliyah, Moustafa S.;
Alsulaiman, Sulaiman M.

Publication type:

Article

Calculation of test-retest variability in phase I/IIa clinical trials for Inherited Retinal Degenerations.

Published in:

2021

By:

Abou-Hanna, Jacob Jeries;
Andrews, Chris A.;
Khan, Naheed W.;
Musch, David C.;
Jayasundera, K. Thiran

Publication type:

Report

Keratoconus in a child with partial trisomy 13.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 360, doi. 10.1080/13816810.2021.1897849

By:

Ernst, Julia;
Eldib, Amgad;
Scanga, Hannah L.;
Nischal, Ken K.

Publication type:

Article

Secondary enucleated retinoblastoma with MYCN amplification.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 354, doi. 10.1080/13816810.2021.1897847

By:

Moulin, Alexandre P.;
Stathopoulos, Christina;
Marcelli, Fabienne;
Schoumans Pouw, Jacqueline;
Beck-Popovic, Maja;
Munier, Francis L.

Publication type:

Article

A homozygous POC1B variant causes recessive cone-rod dystrophy.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 349, doi. 10.1080/13816810.2021.1894460

By:

Peturson, Ann-Marie C.;
Noel, Nicole C. L.;
MacDonald, Ian M.

Publication type:

Article

Retinal dystrophy as part of TTC21B-associated ciliopathy.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 329, doi. 10.1080/13816810.2021.1888131

By:

Ben-Yosef, Tamar;
Asia Batsir, Nurit;
Ali Nasser, Tahleel;
Ehrenberg, Miriam

Publication type:

Article

Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 344, doi. 10.1080/13816810.2021.1894459

By:

Younes, Subhi Talal;
Shiflett, James Mason;
Weaver, Kristin;
Smith, Andrew;
Herrington, Betty;
Taylor, Charlotte;
Reddy, Kartik

Publication type:

Article

Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.

Published in:

2021

By:

Delle Fave, M.;
Cordonnier, M.;
Vallee, l.;
Condroyer, C.;
Zeitz, C.;
Balikova, I.

Publication type:

Report

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.

Published in:

2021

By:

Mendez, Rodrigo;
Iqbal, Sumaiya;
Vishnopolska, Sebastián;
Martinez, Cinthia;
Dibner, Glenda;
Aliano, Rocio;
Zaiat, Jonathan;
Biagioli, Germán;
Fernandez, Cecilia;
Turjanski, Adrian;
Campbell, Arthur J;
Mercado, Graciela;
Marti, Marcelo A.

Publication type:

Report

Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.

Published in:

2021

By:

Aleman, Tomas S.;
O'Neil, Erin C.;
O'Connor, Keli;
Jiang, Yu You;
Aleman, Isabella A.;
Bennett, Jean;
Morgan, Jessica I. W.;
Toussaint, Brian W.

Publication type:

Report

Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 338, doi. 10.1080/13816810.2021.1891552

By:

Fowler, Nicholas H.;
El-Rashedy, May I.;
Chishti, Emad A.;
Vander Kooi, Craig W.;
Maldonado, Ramiro S.

Publication type:

Article

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.

Published in:

2021

By:

Huang, Zhiqin;
Zhang, Dan;
Thompson, Jennifer A.;
Jamuar, Saumya S.;
Roshandel, Danial;
Jennings, Luke;
Mellough, Carla;
Charng, Jason;
Chen, Shang-Chih;
McLaren, Terri L.;
Lamey, Tina M.;
Chelva, Enid;
De Roach, John N.;
Chan, Choi Mun;
McLenachan, Samuel;
Chen, Fred K.

Publication type:

Report

Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 334, doi. 10.1080/13816810.2021.1888133

By:

Wu, Frances;
Goldenberg, Paula C.;
Mukai, Shizuo

Publication type:

Article

Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.

Published in:

2021

By:

Ehrenberg, Miriam;
Bagdonite-Bejarano, Laura;
Fulton, Anne B.;
Orenstein, Naama;
Yahalom, Claudia

Publication type:

Report

An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 326, doi. 10.1080/13816810.2021.1888130

By:

Çelik, Gökhan;
Batu Oto, Bilge;
Kızılay, Osman;
Kılıçarslan, Oğuzhan;
Toptan, Handan Hakyemez

Publication type:

Article

Multimodal imaging of an RPGR carrier female.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 312, doi. 10.1080/13816810.2021.1881981

By:

Kilgore, David A.;
Kilgore, Tyler A.;
Sukpraprut-Braaten, Suporn;
Schaefer, Gerald B.;
Uwaydat, Sami H.

Publication type:

Article

Association study of fibroblast growth factor 10 (FGF10) rs399501 polymorphism with susceptibility to high myopia in a Chinese population.

Published in:

2021

By:

Jiang, Xiu;
Tong, Tian;
Xia, Ning;
Wu, Ling;
Zhang, Cong;
Zhang, Yue;
Li, Ruo-Xi

Publication type:

Report

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 320, doi. 10.1080/13816810.2021.1888127

By:

Daich Varela, Malena;
Hufnagel, Robert B.;
Guan, Bin;
Blain, Delphine;
Sapp, Julie C.;
Gropman, Andrea L.;
Alur, Ramakrishna;
Johnston, Jennifer J.;
Biesecker, Leslie G.;
Brooks, Brian P.

Publication type:

Article

Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243A>G mutation.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 304, doi. 10.1080/13816810.2021.1881978

By:

Oishi, Noriko;
Kubota, Daiki;
Nakamoto, Kenji;
Takeda, Yukito;
Hayashi, Mika;
Gocho, Kiyoko;
Yamaki, Kunihiko;
Igarashi, Tsutomu;
Takahashi, Hiroshi;
Kameya, Shuhei

Publication type:

Article

The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1.

Published in:

2021

By:

Chilibeck, Corina M.;
Shah, Shaheen;
Russell, Heather C.;
Vincent, Andrea L.

Publication type:

Report

Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene.

Published in:

Ophthalmic Genetics, 2021, v. 42, n. 3, p. 300, doi. 10.1080/13816810.2020.1870149

By:

Sen, Sagnik;
Kannan, Saraswathi Karuvel;
Shanmugam, Ulaganathan;
Rajan, Renu;
Babu, Naresh;
Vanniarajan, Ayyasamy

Publication type:

Article

Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

Published in:

2021

By:

Kessel, Line;
Kjer, Birgit;
Lei, Ulrikke;
Duno, Morten;
Grønskov, Karen

Publication type:

Report