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Select item 78195451.

Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome

Klaudia Rakusiewicz, Krystyna Kanigowska, Wojciech Hautz, Dorota Wicher, Marlena Młynek, Marta Wyszyńska, Anna Rogowska, Joanna Jędrzejczak-Młodziejewska, Małgorzata Danowska, Agnieszka Czeszyk

Open Med (Wars) 2021; 16(1): 156–160. Published online 2021 Jan 19. doi: 10.1515/med-2021-0208

PMCID:: PMC7819545

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Select item 39586332.

Using ImageJ to Evaluate Optic Disc Pallor in Traumatic Optic Neuropathy

Sunah Kang, Ungsoo Samuel Kim

Korean J Ophthalmol. 2014 Apr; 28(2): 164–169. Published online 2014 Mar 14. doi: 10.3341/kjo.2014.28.2.164

PMCID:: PMC3958633

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Select item 10433233.

The optic disc in glaucoma, III: diffuse optic disc pallor with raised intraocular pressure.

R A Hitchings

Br J Ophthalmol. 1978 Oct; 62(10): 670–675. doi: 10.1136/bjo.62.10.670

PMCID:: PMC1043323

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Select item 93272454.

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis

Jinfeng Han, Ya Li, Ya You, Ke Fan, Bo Lei

BMC Ophthalmol. 2022; 22: 322. Published online 2022 Jul 26. doi: 10.1186/s12886-022-02546-0

PMCID:: PMC9327245

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Select item 88181785.

Heterozygous factor V Leiden mutation manifesting with combined central retinal vein occlusion, cilioretinal artery occlusion, branch retinal artery occlusion, and anterior ischaemic optic neuropathy: a case report

Anis Mahmoud, Molka Khairallah, Hassen Ibn Hadj Amor, Mohamed Habib Lahdhiri, Nesrine Abroug, Riadh Messaoud, Moncef Khairallah

BMC Ophthalmol. 2022; 22: 55. Published online 2022 Feb 5. doi: 10.1186/s12886-022-02278-1

PMCID:: PMC8818178

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Select item 84704946.

Ocular Toxoplasmosis Associated with Unilateral Pigmentary Retinopathy That May Mimic Retinitis Pigmentosa: Diagnostic Dilemmas

Izabella Karska-Basta, Bożena Romanowska-Dixon, Dorota Pojda-Wilczek, Natalia Mackiewicz

Medicina (Kaunas) 2021 Sep; 57(9): 892. Published online 2021 Aug 27. doi: 10.3390/medicina57090892

PMCID:: PMC8470494

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Select item 81801647.

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova

BMC Ophthalmol. 2021; 21: 249. Published online 2021 Jun 5. doi: 10.1186/s12886-021-02013-2

PMCID:: PMC8180164

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Select item 79961808.

Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness

Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, Ajoy Vincent

Genes (Basel) 2021 Mar; 12(3): 330. Published online 2021 Feb 25. doi: 10.3390/genes12030330

PMCID:: PMC7996180

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Select item 79532039.

Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation

Paul Yang, Pei-Wen Chiang, Richard G. Weleber, Mark E. Pennesi

JAMA Ophthalmol. Author manuscript; available in PMC 2021 Mar 12.

Published in final edited form as: JAMA Ophthalmol. 2015 Jun; 133(6): 653–661. doi: 10.1001/jamaophthalmol.2015.0357

PMCID:: PMC7953203

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Select item 686515210.

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy

LIOR COHEN, SHAY TZUR, NITZA GOLDENBERG-COHEN, CONCETTA BORMANS, DORON M. BEHAR, EYAL REINSTEIN

Genet Res (Camb) 2016; 98: e10. Published online 2016 Jun 6. doi: 10.1017/S0016672316000070

PMCID:: PMC6865152

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Select item 623285611.

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

Zubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, Lili Zheng, Khitab Gul, Shaheen N Khan, Thomas B Friedman, Robert A Sisk, James R Bartles, Sheikh Riazuddin, Saima Riazuddin

J Med Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: J Med Genet. 2018 Jul; 55(7): 479–488. Published online 2018 Mar 23. doi: 10.1136/jmedgenet-2017-105221

PMCID:: PMC6232856

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Select item 587351712.

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

Nashila Hirji, Patrick D. Bradley, Shuning Li, Ajoy Vincent, Mark E. Pennesi, Akshay S. Thomas, Elise Heon, Aparna Bhan, Omar A. Mahroo, Anthony Robson, Chris F. Inglehearn, Anthony T. Moore, Michel Michaelides

Am J Ophthalmol. 2018 Apr; 188: 123–130. doi: 10.1016/j.ajo.2018.01.029

PMCID:: PMC5873517

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Select item 440263713.

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

Merel Klaassens, Deborah Morrogh, Elisabeth M Rosser, Fatima Jaffer, Maaike Vreeburg, Levinus A Bok, Tim Segboer, Martine van Belzen, Ros M Quinlivan, Ajith Kumar, Jane A Hurst, Richard H Scott

Eur J Hum Genet. 2015 May; 23(5): 610–615. Published online 2014 Aug 13. doi: 10.1038/ejhg.2014.162

PMCID:: PMC4402637

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Select item 427812014.

A novel mutation in a case of dominant optic atrophy?

Hema L Ramkumar, Peter J Savino

Indian J Ophthalmol. 2014 Oct; 62(10): 1034–1036. doi: 10.4103/0301-4738.146043

PMCID:: PMC4278120

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Select item 402154015.

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

Daniëlle GM Bosch, F Nienke Boonstra, Michèl AAP Willemsen, Frans PM Cremers, Bert BA de Vries

BMC Ophthalmol. 2014; 14: 59. Published online 2014 May 1. doi: 10.1186/1471-2415-14-59

PMCID:: PMC4021540

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Select item 391966716.

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family

Ditta Zobor, Ghassan Balousha, Britta Baumann, Bernd Wissinger

Mol Vis. 2014; 20: 178–182. Published online 2014 Feb 7.

PMCID:: PMC3919667

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Select item 371772517.

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Chiara Leoni, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia, Giuseppe Zampino

J Med Genet. 2013 Aug; 50(8): 493–499. Published online 2013 May 17. doi: 10.1136/jmedgenet-2012-101405