The art of managing various ocular defects in different clinical scenarios: A case series by Apurva Verma, Ramya Srinivasan, Kaushal Kishor Agrawal, Bhaskar Agarwal, Diksha Singh

Subjects: “…anophthalmia…”
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Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species by Violeta Trejo-Reveles, Nicholas Owen, Brian Ho Ching Chan, Maria Toms, Jeffrey J. Schoenebeck, Mariya Moosajee, Joe Rainger

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A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression by Lauren E. Blizzard, Chelsea Menke, Shaili D. Patel, Ronald R. Waclaw, Salil A. Lachke, Rolf W. Stottmann

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Conjunctival sac microbiome in anophthalmic patients: Flora diversity and the impact of ocular prosthesis materials by Hejia Zhao, Hejia Zhao, Yanjun Chen, Yixu Zheng, Jing Xu, Chenyu Zhang, Chenyu Zhang, Min Fu, Ke Xiong

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The skull osteology of the blind cave cyprinid <i>Phreatichthys andruzzii</i> Vinciguerra, 1924 by Antonella Pucci, Roberto Berti, Alberto Mario Simonetta

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Ocular abnormalities in two sympatric salamanders (Caudata: Plethodontidae) in a pine-oak forest of La Malinche National Park, Mexico by Enrique A. Cante-Bazán, Aurelio Ramírez-Bautista

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Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings by Bruno Lamanna, Miriam Dellino, Eliano Cascardi, Mia Rooke-Ley, Marina Vinciguerra, Gerardo Cazzato, Antonio Malvasi, Amerigo Vitagliano, Pierpaolo Nicolì, Michele Di Cosola, Andrea Ballini, Ettore Cicinelli, Antonella Vimercati

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Spectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service by Animesh Sahu, Savleen Kaur, Jaspreet Sukhija, Priyanka Srivastava, Anupriya Kaur

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Expanding the phenotype of STRA6‐related disorder to include left ventricular non‐compaction by Hairui Sun, Shaomei Yu, Xiaoxue Zhou, Lu Han, Hongjia Zhang, Yihua He

Subjects: “…anophthalmia/microphthalmia…”
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Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research by Saleha S, Ajmal M, Zafar S, Hameed A

Subjects: “…isolated clinical anophthalmia…”
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Robust Genetic Analysis of the X-Linked Anophthalmic (<i>Ie</i>) Mouse by Brianda A. Hernandez-Moran, Andrew S. Papanastasiou, David Parry, Alison Meynert, Philippe Gautier, Graeme Grimes, Ian R. Adams, Violeta Trejo-Reveles, Hemant Bengani, Margaret Keighren, Ian J. Jackson, David J. Adams, David R. FitzPatrick, Joe Rainger

Subjects: “…anophthalmia…”
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Investigating the effects of visual deprivation on subcortical and cortical structures using functional MRI and MR spectroscopy by Coullon, G

“…Anophthalmia provides a unique model of complete deprivation, since the ‘visual’ pathway has not experienced pre- or post-natal visual input.…”

Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes by Engelen, E, Akinci, U, Bryne, J, Hou, J, Gontan, C, Moen, M, Szumska, D, Kockx, C, Van Ijcken, W, Dekkers, D, Demmers, J, Rijkers, E, Bhattacharya, S, Philipsen, S, Pevny, L, Grosveld, F, Rottier, R, Lenhard, B, Poot, R

“…The HMG-box transcription factor Sox2 plays a role throughout neurogenesis and also acts at other stages of development, as illustrated by the multiple organs affected in the anophthalmia syndrome caused by SOX2 mutations. Here we combined proteomic and genomic approaches to characterize gene regulation by Sox2 in neural stem cells. …”

Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. by Engelen, E, Akinci, U, Bryne, J, Hou, J, Gontan, C, Moen, M, Szumska, D, Kockx, C, van Ijcken, W, Dekkers, D, Demmers, J, Rijkers, E, Bhattacharya, S, Philipsen, S, Pevny, L, Grosveld, F, Rottier, R, Lenhard, B, Poot, R

“…The HMG-box transcription factor Sox2 plays a role throughout neurogenesis and also acts at other stages of development, as illustrated by the multiple organs affected in the anophthalmia syndrome caused by SOX2 mutations. Here we combined proteomic and genomic approaches to characterize gene regulation by Sox2 in neural stem cells. …”

Evaluation of the psychological effect and vision related quality of life enucleated/eviscerated patients with prosthetic eyes by Royan, Jeyarine Monica Joan Poopal

“…Introduction: Patients with acquired anophthalmia post evisceration or enucleation surgeries are confronted with the loss of an eye as well as the pathological process which led to the surgery being performed. …”
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Hsp90 selectively modulates phenotype in vertebrate development. by Patricia L Yeyati, Ruth M Bancewicz, John Maule, Veronica van Heyningen

“…Unlike in Drosophila, Hsp90 inhibition can decrease developmental stability in zebrafish, as indicated by increased asymmetric presentation of anophthalmia, microphthalmia, and nanophthalmia and sunrise phenotypes. …”
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Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. by Kaur, K, Ragge, N, Ragoussis, J

“…However, on the basis of these results, it is unlikely that FOXC1 mutation is a major causative factor of anophthalmia, microphthalmia, and coloboma.…”

Microphthalmia, dermal aplasia, and sclerocornea syndrome: A case report and review of literature by Vibhu Mendiratta, Anukriti Yadav

“…Microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome is a rare syndrome manifesting at birth with a wide variety of abnormalities which include microphthalmia and/or anophthalmia, sclerocornea, linear skin defects with dermal aplasia limited to the face and neck, ocular abnormalities, central nervous system involvement, cardiac anomalies, hearing impairment, and genitourinary malformations. …”
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Four new species of the genus Ochyrocera (Araneae, Ochyroceratidae) from iron caves of the state of Minas Gerais, with the description of the third anophtalmic species from Brazil... by Antonio Domingos Brescovit, Robson de Almeida Zampaulo, Leandro Mota Pedroso, Igor Cizauskas

“…Only O. dorinha sp. nov. and O. rosinha sp. nov. are considered as troglobites due the ocular reduction or anophthalmia and elongated appendages, two troglomorphic features absent in the other species described.…”
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Duration of coming life associated with disablement owing to ophthalmothology by N. M. Rustamova

“…The moderate heaviness of the medico-social burden (the middle duration of coming lif associated with disablement less than 20 years) is characteristic for diabetic retinopathy, glaucoma and uveitis and the high degree of heaviness (the middle duration of coming life associated with disablement more than 30 years) for disease of eyeball, visual nerve, eye traumas, myopia and anophthalmia.…”
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