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Takashi Kojima, Asato Hasegawa, Tomoaki Nakamura, Naoki Isogai, Takahiro Kataoka, Kazuo Ichikawa
PURPOSE: Aniridic keratopathy is vision-threatening condition in patients with aniridia. The keratopathy occurs due to limbal stem cell deficiency. When conventional treatments fail, surgical treatments such as corneal limbal transplantation or cultivated oral mucosal epithelium transplantation are the alternatives. Here, we report our experience with the management and monitoring of the progress of a case with aniridic keratopathy treated with a scleral lens. CASE REPORT: We describe the case of a 30-year-old woman with aniridic keratopathy in both eyes...
October 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
Rakhi Kusumesh, Anita Ambastha
No abstract text is available yet for this article.
July 2016: Journal of Clinical and Diagnostic Research: JCDR
Hideharu Hashimoto, Xing Zhang, Yu Zheng, Geoffrey G Wilson, Xiaodong Cheng
Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation). These conditions vary in severity from individual to individual; they can be fatal in early childhood, or relatively benign into adulthood...
September 4, 2016: Nucleic Acids Research
Joanna Yeung, Thomas J Ha, Douglas J Swanson, Dan Goldowitz
UNLABELLED: Pax6 is a prominent gene in brain development. The deletion of Pax6 results in devastated development of eye, olfactory bulb, and cortex. However, it has been reported that the Pax6-null Sey cerebellum only has minor defects involving granule cells despite Pax6 being expressed throughout cerebellar development. The present work has uncovered a requirement of Pax6 in the development of all rhombic lip (RL) lineages. A significant downregulation of Tbr1 and Tbr2 expression is found in the Sey cerebellum, these are cell-specific markers of cerebellar nuclear (CN) neurons and unipolar brush cells (UBCs), respectively...
August 31, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Jack W Hickmott, Chih-Yu Chen, David J Arenillas, Andrea J Korecki, Siu Ling Lam, Laurie L Molday, Russell J Bonaguro, Michelle Zhou, Alice Y Chou, Anthony Mathelier, Sanford L Boye, William W Hauswirth, Robert S Molday, Wyeth W Wasserman, Elizabeth M Simpson
Current gene therapies predominantly use small, strong, and readily available ubiquitous promoters. However, as the field matures, the availability of small, cell-specific promoters would be greatly beneficial. Here we design seven small promoters from the human paired box 6 (PAX6) gene and test them in the adult mouse retina using recombinant adeno-associated virus. We chose the retina due to previous successes in gene therapy for blindness, and the PAX6 gene since it is: well studied; known to be driven by discrete regulatory regions; expressed in therapeutically interesting retinal cell types; and mutated in the vision-loss disorder aniridia, which is in need of improved therapy...
2016: Molecular Therapy. Methods & Clinical Development
Medi Eslani, Zeeshan Haq, Asadolah Movahedan, Adam Moss, Alireza Baradaran-Rafii, Gautham Mogilishetty, Edward J Holland, Ali R Djalilian
PURPOSE: To describe the clinical presentation and management of late (>3.0 years) acute graft rejection in keratolimbal allograft (KLAL) recipients. METHODS: This was a multicenter, retrospective observational case series. Six eyes of 6 patients with ocular surface transplant at a mean age of 36.2 years were seen at 3 tertiary referral centers for acute graft rejection between 2007 and 2013. Main outcome measures included strength of systemic immunosuppression (SI) at the time of rejection, time to rejection, and clinical presentation of rejection...
July 27, 2016: Cornea
Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Cristina Villanueva-Mendoza, Vianney Cortés-González, Muhammad Imran Khan, Anneke I den Hollander
BACKGROUND: Anterior segment dysgenesis (ASD) disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families with anterior segment dysgenesis disorders. METHODS: We studied 14 Pakistani and one Mexican family with Axenfeld Rieger syndrome (ARS; n = 10) or aniridia (n = 5). All affected and unaffected family members underwent full ophthalmologic and general examinations...
2016: PloS One
Jing Chen, Jianfang Zhu
OBJECTIVE: To investigate the mutation of PAX6 gene in a Chinese family affected with congenital aniridia. METHODS: Blood samples were drawn from family members, and DNA was analyzed by direct sequencing. RESULTS: A heterozygous mutation (c.151 G>A) was identified in the PAX6 gene in the proband and other patients from the family. The same mutation was not found among unaffected family members and 160 unrelated healthy controls. CONCLUSION: A novel mutation in the PAX6 gene has been identified in a Chinese family affected with aniridia...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Yang Kang, Xue Li, Qiong Wu, Wenyan Zhou, Qingjun Li, Qi Hu
OBJECTIVE: To identify potential mutation of the PAX6 gene in a family affected with congenital aniridia from northeastern China. METHODS: Two patients were collected from the family and underwent full ophthalmologic examinations. Genomic DNA was extracted from all family numbers and 100 healthy controls. The coding regions and flanking sequence of the PAX6 gene were amplified by PCR amplification and subjected to bidirectional DNA sequencing. RESULTS: A nonsense mutation (c...
August 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Ozlem Giray Bozkaya, Esra Ataman, Ozge Aksel Kilicarslan, Tufan Cankaya, Ayfer Ulgenalp
Aniridia is a congenital, panocular abnormality which is characterized by partial or complete absence of iris and various degrees of iris hypoplasia. Mutations in the PAX6 gene are found in ~90% of cases with aniridia. The human PAX6 gene is located at chromosome 11p13 and encodes a transcriptional regulator that has crucial roles in the development of the eyes, central nervous system and pancreatic islets. The present study performed a clinical and genomic analysis of two families containing multiple cases of aniridia...
September 2016: Molecular Medicine Reports
Gonzalo Carracedo, Almudena Crooke, Ana Guzman-Aranguez, Maria J Pérez de Lara, Alba Martin-Gil, Jesús Pintor
Dinucleoside polyphosphates comprises a group of dinucleotides formed by two nucleosides linked by a variable number of phosphates, abbreviated NpnN (where n represents the number of phosphates). These compounds are naturally occurring substances present in tears, aqueous humour and in the retina. As the consequence of their presence, these dinucleotides contribute to many ocular physiological processes. On the ocular surface, dinucleoside polyphosphates can stimulate tear secretion, mucin release from goblet cells and they help epithelial wound healing by accelerating cell migration rate...
July 12, 2016: Progress in Retinal and Eye Research
Amir Norouzpour, Siamak Zarei-Ghanavati
PURPOSE: To report hydrophilic acylic intraocular lens (IOL) opacification after Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) in an eye with multiple prior intraocular surgeries and iatrogenic aniridia. CASE REPORT: A 34-year-old woman with history of penetrating keratoplasty (PKP) for advanced keratoconus and subsequent Urrets-Zavalia Syndrome (UZS) underwent phacoemulsification and hydrophilic acrylic IOL implantation for her cataract. In order to control post-PKP glaucoma, multiple glaucoma surgeries including two glaucoma drainage implants were performed...
April 2016: Journal of Ophthalmic & Vision Research
Rose Richardson, Melanie Hingorani, Veronica Van Heyningen, Cheryl Gregory-Evans, Mariya Moosajee
No abstract text is available yet for this article.
July 6, 2016: European Journal of Human Genetics: EJHG
Mahinda Yogarajah, Mar Matarin, Christian Vollmar, Pamela J Thompson, John S Duncan, Mark Symms, Anthony T Moore, Joan Liu, Maria Thom, Veronica van Heyningen, Sanjay M Sisodiya
OBJECTIVE: PAX6 is a pleiotropic transcription factor essential for the development of several tissues including the eyes, central nervous system, and some endocrine glands. Recently it has also been shown to be important for the maintenance and functioning of corneal and pancreatic tissues in adults. We hypothesized that PAX6 is important for the maintenance of brain integrity in humans, and that adult heterozygotes may have abnormalities of cortical patterning analogous to those found in mouse models...
May 2016: Annals of Clinical and Translational Neurology
Satoshi Katagiri, Tadashi Yokoi, Masashi Mikami, Sachiko Nishina, Noriyuki Azuma
PURPOSE: To investigate the relationship between vision and foveal maturity, especially in foveal hypoplasia exhibiting severe structural immaturity. METHODS: This retrospective observational case series included 42 eyes of 23 patients (mean age, 7.0 ± 5.0 years; 9 patients with foveal hypoplasia as an isolated entity and 14 patients with aniridia). A complete ophthalmic examination included measurement of best-corrected visual acuity (BCVA) and spectral-domain optical coherence tomography (SD-OCT)...
May 23, 2016: Graefe's Archive for Clinical and Experimental Ophthalmology
Maria Montserrat Bausili, Juan Alvarez de Toledo, Rafael I Barraquer, Ralph Michael, Francesc Tresserra, Maria Fideliz de la Paz
PURPOSE: To evaluate the corneal button of primary penetrating keratoplasty of patients diagnosed with congenital aniridia. The study took place at the Instituto Universitario Barraquer and the Centro de Oftalmología Barraquer. METHODS: A retrospective analysis of cases diagnosed with congenital aniridia was carried out. We analyzed 13 corneal buttons of 11 eyes with congenital aniridia. We only included those patients who underwent penetrating keratoplasty for the first time...
April 29, 2016: Ophthalmic Research
Sophocles Sophocleous
Phacoemulsification cataract surgery with small clear corneal incision (CCI) is the standard of care for cataract treatment. Self-sealing, clear corneal wounds have been found to be stable and able to withstand high pressures. Nevertheless, there are a few cases published describing patients with previous cataract surgery and manually performed CCI who sustained blunt trauma with associated wound dehiscence, iris disinsertion and expulsion through the wound. The case described here demonstrates an eye that had traumatic aniridia post-blunt trauma, while the intraocular lens and the rest of the ocular structures remained intact...
2016: BMJ Case Reports
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris hypoplasia, ataxia and mild to moderate developmental delay). Array-based comparative genomic hybridization identified six whole gene deletions: four encompassing PAX6 and two encompassing FOXC1. Six deletions with plausible cis-regulatory effects were identified: five that were 3' (telomeric) to PAX6 and one within a gene desert 5' (telomeric) to PITX2...
2016: PloS One
M Sherif, E Sharkawi, T J Wolfensberger
No abstract text is available yet for this article.
April 2016: Klinische Monatsblätter Für Augenheilkunde
C Kniestedt, R Eberhard, J Fleischhauer
Background. Iris defects are mostly acquired after injury, or may be iatrogenic after surgical excision of iris tumours or the result of collateral trauma after anterior segment surgery. They cause severe visual disability, e.g. glare, loss of contrast sensitivity, and loss of best corrected visual acuity. The foldable Koch iris prosthesis has a customised iris design and may be used to reconstruct the anterior segment in patients with partial or complete aniridia. History and Signs. We present the surgical management and clinical course of 6 patients with traumatic iris defects, together with 3 patients with partial aniridia after cataract surgery...
April 2016: Klinische Monatsblätter Für Augenheilkunde
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