Results 81 to 90 of about 19,769 (229)

Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism

CHRISMED Journal of Health and Research, 2016
Bardet–Biedl syndrome (BBS) is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyly, male hypogonadism ...
Yatendra Singh, Makrand Singh, Sandeep Raj Saxena, Soniya Prakash, Arun Joshi   +4 more
doaj   +1 more source

Multimodal imaging of hereditary retinal dystrophies (a series of clinical cases)

Российский офтальмологический журнал, 2020
Multimodal visualization data of inherited retinal degeneration (IRD) on a Mirante platform (Nidek, Japan), used in a number of clinical cases, is compared with the data obtained by electrophysiological diagnostic methods.
S. V. Milash, I. V. Zolnikova, V. V. Kadyshev   +2 more
doaj   +1 more source

Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report

BMC Ophthalmology, 2021
Background To report the first Italian case of hypotrichosis with juvenile macular dystrophy complicated by macular neovascularization diagnosed through multimodal imaging.
Giovanna Carnovale-Scalzo, Adriano Carnevali, Gabriele Piccoli, Domenico Ceravolo, Donatella Bruzzichessi, Rodolfo Iuliano, Rossana Tallerico, Valentina Gatti, Giuseppe Giannaccare, Vincenzo Scorcia   +9 more
doaj   +1 more source

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa

Frontiers in Cell and Developmental Biology, 2021
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, and 15–25% of RP is transmitted as an autosomal dominant (ad) trait. The objectives of this study were to establish the variant profile in a large cohort of adRP families ...
Ting Xiao, Yue Xie, Xin Zhang, Ke Xu, Xiaohui Zhang, Zi-Bing Jin, Yang Li   +6 more
doaj   +1 more source

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs. [PDF]

, 2017
Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous group of diseases, adequate disease models are required in order to better understand pathology
Carr, Amanda-Jayne F, Cheetham, Michael E, Chen, Li Li, Coffey, Peter J, da Cruz, Lyndon, J K Smart, Matthew, Moore, Anthony T, Muthiah, Manickam N, Nommiste, Britta, Powner, Michael B, R Lane, Amelia, Ramsden, Conor M, Webster, Andrew R   +12 more
core   +1 more source

Revised Swedish visual field standards for a driver's licence: Threshold perimetry as a predictor of eligibility according to the current Swedish and current Norwegian suprathreshold standards

Acta Ophthalmologica, EarlyView.
Abstract Purpose To explore whether threshold perimetry can predict fulfilment of the current Swedish and current Norwegian Esterman perimetry standards for Group 1 driver's licence, and differences in compliance between the former and current Swedish visual field standards.
Wid Saadi, Tomas Bro, Susanna Sagerfors
wiley   +1 more source

Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause IRD which makes the identification of the underlying genetic causes quite challenging.
Mohammed Abu‐Ameerh, Hashim Mohammad, Zain Dardas, Raghda Barham, Dema Ali, Maysa Bijawi, Mohamed Tawalbeh, Sami Amr, Ma'mon M. Hatmal, Muawyah Al‐Bdour, Abdalla Awidi, Belal Azab   +11 more
doaj   +1 more source

Loss of Foveal Cone Structure Precedes Loss of Visual Acuity in Patients With Rod-Cone Degeneration. [PDF]

, 2019
PurposeTo assess the relationship between cone spacing and visual acuity in eyes with rod-cone degeneration (RCD) followed longitudinally.MethodsHigh-resolution images of the retina were obtained using adaptive optics scanning laser ophthalmoscopy from ...
Bensinger, Ethan, Duncan, Jacque L, Griffin, Shane, Loumou, Panagiota, Porco, Travis C, Qin, Jia, Ratnam, Kavitha, Rinella, Nicholas, Roorda, Austin, Saud, Asma   +9 more
core  

Coenzyme Q10 as a therapeutic candidate for treating inherited photoreceptor degeneration [PDF]

, 2017
Inherited photoreceptor degeneration (IPD): The human retina is a highly specialised tissue that enables the perception of light across a range of intensities and colours.
Biswas, Lincoln, Reilly, James, Shu, Xinhua, Tiano, Luca, Tohari, Ali Mohammad, Zhang, Xun   +5 more
core   +4 more sources

Decline of Visual Function and Risk of Legal Blindness With Age in RPGR‐Associated Retinal Degeneration: A Multicenter Study

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background This retrospective multicenter longitudinal analysis analysed the loss trajectory of best recorded visual acuity (BRVA) and Goldmann visual field (GVF) in RPGR‐associated retinal degeneration (RPGR‐RD). Methods Patients with genetically confirmed RPGR‐RD were classified into rod‐cone (RC), cone/cone‐rod (CR) and female‐carrier ...
Bela J. Parekh, Joshua D. Stein, Rebhi Abuzaitoun, Chris A. Andrews, Kari Branham, Dejan Milentijevic, Divya Narayanan, Naheed W. Khan, Suzann Pershing, Sophia Y. Wang, Baseer U. Ahmad, Thomas B. Connor, Jennifer L. Patnaik, Marc Mathias, Monique Leys, Brian McMillan, Nnana Amakiri, Taylor J. Johnson, Catherine Q. Sun, Jacque L. Duncan, K. Thiran Jayasundera, on behalf of the SOURCE consortium, Sejal Amin, Paul A. Edwards, Divya Srikumaran, Fasika Woreta, Jeffrey S. Schultz, Anurag Shrivastava, Baseer Ahmad, Louis R. Pasquale, Paul J. Bryar, Dustin D. French, Michelle Hribar, Merina Thomas, Brian L. Vanderbeek, Suzann Pershing, Sophia Y. Wang, Michael Deiner, Catherine Sun, Jennifer Patnaik, Prem Subramanian, Saleha Munir, Wuqaas Munir, Joshua Stein, Lindsey De Lott, Rajeev Ramachandran, Robert Feldman, Brian C. Stagg, Barbara Wirostko, Brian McMillian, Arsham Sheybani, Soshian Sarrapour, Kristen Harris‐Nwanyanwu   +52 more
wiley   +1 more source