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Select item 111714131.

Electroretinogram Abnormalities in FKRP Related Limb-Girdle Muscular Dystrophy (LGMDR9)

Joshua L. Hagedorn, Taylor M. Dunn, Sajag Bhattarai, Carrie Stephan, Katherine D. Mathews, Wanda Pfeifer, Arlene V. Drack

Doc Ophthalmol. Author manuscript; available in PMC 2024 Jun 13.

Published in final edited form as: Doc Ophthalmol. 2023 Feb; 146(1): 7–16. Published online 2022 Nov 18. doi: 10.1007/s10633-022-09909-4

PMCID:: PMC11171413

Abstract Article PDF–1014K

Select item 111396442.

RBP3-Retinopathy—Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping

Michalis Georgiou, Kaoru Fujinami, Anthony G. Robson, Yu Fujinami-Yokokawa, Ahmed F. Shakarchi, Marco H. Ji, Sami H. Uwaydat, Angela Kim, Masha Kolesnikova, Gavin Arno, Nikolas Pontikos, Omar A. Mahroo, Stephen H. Tsang, Andrew R. Webster, Michel Michaelides

Am J Ophthalmol. 2024 Feb; 258: 119–129. doi: 10.1016/j.ajo.2023.09.025

PMCID:: PMC11139644

Abstract Article PDF–2.2M

Select item 111231953.

Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients

Marco Piergentili, Vito Spagnuolo, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Elisabetta Pelo, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi

Medicina (Kaunas) 2024 May; 60(5): 797. Published online 2024 May 11. doi: 10.3390/medicina60050797

PMCID:: PMC11123195

Abstract Article PDF–11M

Select item 110367754.

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini

BMC Med Genomics. 2024; 17: 100. Published online 2024 Apr 22. doi: 10.1186/s12920-024-01868-w

PMCID:: PMC11036775

Abstract Article PDF–2.3M

Select item 109549855.

Unusual OCT findings in a patient with CABP4-associated cone–rod synaptic disorder

Jit Kai Tan, Gavin Arno, Dragana Josifova, Moin D. Mohamed, Omar A. Mahroo

Doc Ophthalmol. 2024; 148(2): 115–120. Published online 2024 Jan 11. doi: 10.1007/s10633-023-09961-8

PMCID:: PMC10954985

Abstract Article PDF–924K

Select item 103790866.

Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitf^mi/+ Mice

Andrea García-Llorca, Knútur Haukstein Ólafsson, Arnór Thorri Sigurdsson, Thor Eysteinsson

Genes (Basel) 2023 Jul; 14(7): 1458. Published online 2023 Jul 17. doi: 10.3390/genes14071458

PMCID:: PMC10379086

Abstract Article PDF–8.7M

Select item 103087387.

Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration

PAUL S. MICEVYCH, JESSICA WONG, HAO ZHOU, RUIKANG K. WANG, TRAVIS C. PORCO, JOSEPH CARROLL, AUSTIN ROORDA, JACQUE L. DUNCAN

Am J Ophthalmol. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Am J Ophthalmol. 2023 Jun; 250: 1–11. Published online 2023 Jan 14. doi: 10.1016/j.ajo.2023.01.006

PMCID:: PMC10308738

Abstract Article PDF–889K

Select item 102660388.

Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models

Yunlu Xue, Xiaomei Sun, Sean K. Wang, Gayle B. Collin, Vladimir J. Kefalov, Constance L. Cepko

Proc Natl Acad Sci U S A. 2023 Jun 6; 120(23): e2217885120. Published online 2023 May 30. doi: 10.1073/pnas.2217885120

PMCID:: PMC10266038

Abstract Article PDF–5.5M

Select item 102346969.

A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature

Ning Chiu, Winston Lee, Pei-Kang Liu, Sarah R Levi, Hung-Hsi Wang, Nelson Chen, Eugene Yu-Chuan Kang, Go Hun Seo, Hane Lee, Laura Liu, Wei-Chi Wu, Shawn H. Tsai, Nan-Kai Wang

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

Published in final edited form as: Ophthalmic Genet. 2022 Jun; 43(3): 378–384. Published online 2021 Dec 16. doi: 10.1080/13816810.2021.2010773

PMCID:: PMC10234696

Abstract Article PDF–1.9M

Select item 1019005710.

Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report

Hyun Woo Lee, Eun Kyoung Lee

BMC Ophthalmol. 2023; 23: 221. Published online 2023 May 17. doi: 10.1186/s12886-023-02968-4

PMCID:: PMC10190057

Abstract Article PDF–2.1M

Select item 1014866411.

Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration

Dawiyat Massoudi, Seán Gorman, Yien-Ming Kuo, Takao Iwawaki, Scott A. Oakes, Feroz R. Papa, Douglas B. Gould

Invest Ophthalmol Vis Sci. 2023 Apr; 64(4): 30. Published online 2023 Apr 25. doi: 10.1167/iovs.64.4.30

PMCID:: PMC10148664

Abstract Article PDF–3.6M

Select item 1003974412.

Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy

Da Zhao, Paulo Pinares-Garcia, Chaseley E. McKenzie, Lauren E. Bleakley, Ian C. Forster, Vickie H.Y. Wong, Christine T.O. Nguyen, Ingrid E. Scheffer, Christopher A. Reid, Bang V. Bui

J Neurosci. 2023 Mar 22; 43(12): 2199–2209. doi: 10.1523/JNEUROSCI.1615-22.2022

PMCID:: PMC10039744

Abstract Article PDF–2.6M

Select item 995745213.

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene

Jana Sajovic, Andrej Meglič, Marija Volk, Aleš Maver, Martina Jarc-Vidmar, Marko Hawlina, Ana Fakin

Genes (Basel) 2023 Feb; 14(2): 291. Published online 2023 Jan 22. doi: 10.3390/genes14020291

PMCID:: PMC9957452

Abstract Article PDF–13M

Select item 994077214.

USH2A Gene Mutations in Rabbits Lead to Progressive Retinal Degeneration and Hearing Loss

Van Phuc Nguyen, Jun Song, Diane Prieskorn, Junhuang Zou, Yanxiu Li, David Dolan, Jie Xu, Jifeng Zhang, K. Thiran Jayasundera, Jun Yang, Yehoash Raphael, Naheed Khan, Michael Iannuzzi, Charles Bisgaier, Y. Eugene Chen, Yannis M. Paulus, Dongshan Yang

Transl Vis Sci Technol. 2023 Feb; 12(2): 26. Published online 2023 Feb 16. doi: 10.1167/tvst.12.2.26

PMCID:: PMC9940772

Abstract Article PDF–6.4M

Select item 960392515.

A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes

Ulrika Kjellström, Sten Andréasson

Mol Vis. 2022; 28: 300–316. Published online 2022 Oct 1.

PMCID:: PMC9603925

Abstract Article PDF–1.4M

Select item 954098216.

An unusual inherited electroretinogram feature with an exaggerated negative component in dogs

Simon M. Petersen‐Jones, Nate Pasmanter, Laurence M. Occelli, Kristen J. Gervais, Freya M. Mowat, Janice Querubin, Paige A. Winkler

Vet Ophthalmol. 2022 Sep; 25(5): 385–397. Published online 2022 Jun 17. doi: 10.1111/vop.12998

PMCID:: PMC9540982

Abstract Article PDF–4.7M

Select item 946466417.

Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease

Winston Lee, Pei-Yin Su, Jana Zernant, Takayuki Nagasaki, Stephen H. Tsang, Rando Allikmets

Ophthalmol Retina. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Ophthalmol Retina. 2022 Apr 10 : S2468-6530(22)00182-8. Published online 2022 Apr 10. doi: 10.1016/j.oret.2022.04.005

PMCID:: PMC9464664

Abstract Article PDF–2.4M

Select item 931506918.

Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2

Shannon M. Conley, Cynthia K. McClard, Maggie L. Mwoyosvi, Niyaf Alkadhem, Bojana Radojevic, Martin Klein, David Birch, Ashley Ellis, Sonny W. Icks, Tejesh Guddanti, Lea D. Bennett

Invest Ophthalmol Vis Sci. 2022 Jul; 63(8): 19. Published online 2022 Jul 21. doi: 10.1167/iovs.63.8.19

PMCID:: PMC9315069

Abstract Article PDF–3.2M

Select item 908114419.

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

Abstract Article PDF–810K

Select item 905555320.

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Vasily M. Smirnov, Marco Nassisi, Saddek Mohand-Saïd, Crystel Bonnet, Anne Aubois, Céline Devisme, Thilissa Dib, Christina Zeitz, Natalie Loundon, Sandrine Marlin, Christine Petit, Bahram Bodaghi, José-Alain Sahel, Isabelle Audo

Invest Ophthalmol Vis Sci. 2022 Apr; 63(4): 25. Published online 2022 Apr 28. doi: 10.1167/iovs.63.4.25