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Select item 110107721.

A proposal for an updated staging system for LCHADD retinopathy

Nida Wongchaisuwat, Melanie B. Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O. Harding, Jose Alain Sahel, Ken K. Nischal, Hannah L. Scanga, Danielle Black, Jerry Vockley, Georgianne Arnold, Mark E. Pennesi

Ophthalmic Genet. Author manuscript; available in PMC 2024 Apr 12.

Published in final edited form as: Ophthalmic Genet. 2024 Apr; 45(2): 140–146. Published online 2024 Jan 30. doi: 10.1080/13816810.2024.2303682

PMCID:: PMC11010772

Article PDF–770K

Select item 108411932.

Aberrant gene expression yet undiminished retinal ganglion cell genesis in iPSC derived models of optic nerve hypoplasia

Jennifer G. Aparicio, Hanno Hopp, Narine Harutyunyan, Carly Stewart, David Cobrinik, Mark Borchert

Ophthalmic Genet. Author manuscript; available in PMC 2025 Feb 1.

Published in final edited form as: Ophthalmic Genet. 2024 Feb; 45(1): 1–15. Published online 2024 Jan 26. doi: 10.1080/13816810.2023.2253902

PMCID:: PMC10841193

Article PDF–2.1M

Select item 108407513.

PNPLA6 disorders: what’s in a name?

James Liu, Robert B. Hufnagel

Ophthalmic Genet. Author manuscript; available in PMC 2024 Dec 1.

Published in final edited form as: Ophthalmic Genet. 2023 Dec; 44(6): 530–538. Published online 2023 Nov 20. doi: 10.1080/13816810.2023.2254830

PMCID:: PMC10840751

Article PDF–699K

Select item 107550694.

Local Progression Kinetics of Macular Atrophy in Recessive Stargardt Disease

Benjamin Young, Peter Y. Zhao, Liangbo L. Shen, Abigail Fahim, Thiran Jayasundera

Ophthalmic Genet. Author manuscript; available in PMC 2024 Dec 1.

Published in final edited form as: Ophthalmic Genet. 2023 Dec; 44(6): 539–546. Published online 2023 Jun 29. doi: 10.1080/13816810.2023.2228891

PMCID:: PMC10755069

Article PDF–1.3M

Select item 106880265.

Ten Things You Learned in Your Residency About Retinoblastoma That Have Changed The 2023 Victor T. Curtin Lecture

David H. Abramson

Ophthalmic Genet. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Ophthalmic Genet. 2023 Aug; 44(4): 321–326. Published online 2023 Mar 30. doi: 10.1080/13816810.2023.2189948

PMCID:: PMC10688026

Article PDF–628K

Select item 101988166.

The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients

Kavin Selvan, Rebhi Abuzaitoun, Maria Fernanda Abalem, Ajoy Vincent, Chris A. Andrews, Gabrielle D. Lacy, Rafid Farjo, Karissa Kao, Krystal Kao, Gislin Dagnelie, David C. Musch, K. Thiran Jayasundera, Elise Héon

Ophthalmic Genet. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2023 Jun; 44(3): 218–225. Published online 2023 Feb 22. doi: 10.1080/13816810.2023.2179074

PMCID:: PMC10198816

Article PDF–742K

Select item 100392847.

A Novel Variant Affecting the Cytoplasmic Tail of the FAT1 Protocadherin Causing Coloboma and Renal Failure: A Case Report

Emile R. Vieta-Ferrer, Ehsan Ullah, Delphine Blain, Julie A. Christensen, Carmen C. Brewer, James E. Balow, Aman George, Robert B. Hufnagel, Tiziana Cogliati, Brian P. Brooks

Ophthalmic Genet. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Ophthalmic Genet. 2023 Apr; 44(2): 182–185. Published online 2023 Feb 22. doi: 10.1080/13816810.2022.2089360

PMCID:: PMC10039284

Article PDF–595K

Select item 98771228.

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

Ophthalmic Genet. Author manuscript; available in PMC 2023 Jan 26.

Published in final edited form as: Ophthalmic Genet. 2022 Dec; 43(6): 855–861. Published online 2022 Oct 31. doi: 10.1080/13816810.2022.2138457

PMCID:: PMC9877122

Article PDF–649K

Select item 96155589.

MERTK missense variants in three patients with retinitis pigmentosa

Federica E. Poli, Imran H. Yusuf, Penny Clouston, Morag Shanks, Jennifer Whitfield, Peter Charbel Issa, Robert E. MacLaren

Ophthalmic Genet. 2023; 44(1): 74–82. Published online 2022 Aug 29. doi: 10.1080/13816810.2022.2113541

PMCID:: PMC9615558

Article PDF–13M

Select item 996836110.

Clinical Characteristics of High Myopia in Female Carriers of Pathogenic RPGR Mutations: A Case Series and Review of the Literature

Matthew Tran, Masha Kolesnikova, Angela H. Kim, Tia Kowal, Ke Ning, Vinit B. Mahajan, Stephen H. Tsang, Yang Sun

Ophthalmic Genet. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2023 Jun; 44(3): 295–303. Published online 2022 Aug 26. doi: 10.1080/13816810.2022.2113544

PMCID:: PMC9968361

Article PDF–1.5M

Select item 1161010711.

De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia

Charles DeYoung, Bin Guan, Ehsan Ullah, Delphine Blain, Robert B. Hufnagel, Brian P. Brooks

Ophthalmic Genet. Author manuscript; available in PMC 2024 Dec 2.

Published in final edited form as: Ophthalmic Genet. 2022 Aug; 43(4): 513–517. Published online 2022 Mar 23. doi: 10.1080/13816810.2022.2028299

PMCID:: PMC11610107

Article PDF–1.0M

Select item 917753112.

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

Andrew J. Catomeris, Brian G. Ballios, Riccardo Sangermano, Naomi E. Wagner, Jason I. Comander, Eric A. Pierce, Emily M. Place, Kinga M. Bujakowska, Rachel M. Huckfeldt

Ophthalmic Genet. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2022 Jun; 43(3): 332–339. Published online 2022 Jan 20. doi: 10.1080/13816810.2021.2023196

PMCID:: PMC9177531

Article PDF–2.2M

Select item 908114413.

Cone pathway dysfunction in Jalili syndrome due to a novel familial variant of CNNM4 revealed by pupillometry and electrophysiologic investigations

Robert A. Hyde, Jason C. Park, Evelina Kratunova, J. Jason McAnany

Ophthalmic Genet. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Ophthalmic Genet. 2022 Apr; 43(2): 268–276. Published online 2021 Dec 7. doi: 10.1080/13816810.2021.2002916

PMCID:: PMC9081144

Article PDF–810K

Select item 1099045614.

Correction

Ophthalmic Genet. 2021; 42(6): 790. Published online 2021 Sep 7. doi: 10.1080/13816810.2021.1976939

Corrects:: Ophthalmic Genet. 2021; 42(4): 431–439.

PMCID:: PMC10990456

Correction PDF–1.1M

Select item 883165415.

Using crowdsourcing to understand patients attitudes toward a clinical trial for retinitis pigmentosa requiring 4 years of participation

Xiangrong Kong, Cory Dorfman, Susie Trotochaud, Fahd Naufal, Carl A. Latkin, Peter A. Campochiaro

Ophthalmic Genet. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Ophthalmic Genet. 2022 Feb; 43(1): 36–41. Published online 2021 Aug 11. doi: 10.1080/13816810.2021.1961282

PMCID:: PMC8831654

Article PDF–231K

Select item 1023469516.

A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response

Pei-Kang Liu, Joseph Ryu, Lung-Kun Yeh, Kuan-Jen Chen, Stephen H. Tsang, Laura Liu, Nan-Kai Wang

Ophthalmic Genet. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2021 Aug; 42(4): 458–463. Published online 2021 May 7. doi: 10.1080/13816810.2021.1920039

PMCID:: PMC10234695

Article PDF–1.3M

Select item 890318517.

A 7- year old female with Arthrogryposis Multiplex Congenita, Duane Retraction Syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: A Clinical Presentation of the Wieacker-Wolff Syndrome

Deena Godfrey, Alcy R. Torres, Gena Heidary, Hovra Zahoor, Arthur Lee, Gerard Berry, Elizabeth Engle

Ophthalmic Genet. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Ophthalmic Genet. 2021 Oct; 42(5): 612–614. Published online 2021 May 5. doi: 10.1080/13816810.2021.1923040

PMCID:: PMC8903185

Article PDF–155K

Select item 815473718.

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism

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

Ophthalmic Genet. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2021 Jun; 42(3): 320–325. Published online 2021 Mar 15. doi: 10.1080/13816810.2021.1888127

PMCID:: PMC8154737

Article PDF–612K

Select item 815467019.

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

Nicholas Fowler, May El-Rashedy, Emad Chishti, Craig W. Vander Kooi, Ramiro Maldonado

Ophthalmic Genet. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2021 Jun; 42(3): 338–343. Published online 2021 Feb 25. doi: 10.1080/13816810.2021.1891552

PMCID:: PMC8154670

Article PDF–1.1M

Select item 798787320.

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

Ophthalmic Genet. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Ophthalmic Genet. 2021 Apr; 42(2): 195–199. Published online 2020 Nov 29. doi: 10.1080/13816810.2020.1852576

PMCID:: PMC7987873

Article PDF–664K

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