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Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

Diagnostics, 2020
Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described.
Yasmin Tatour, Tamar Ben-Yosef
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A deep learning model for diagnosis of inherited retinal diseases [PDF]

Scientific Reports
To evaluate the performance of a multi-input deep learning (DL) model in detecting two common inherited retinal diseases (IRDs), i.e. retinitis pigmentosa (RP) and Stargardt disease (STGD), and differentiating them from healthy eyes. This cross-sectional
Freshteh Jafarbeglou, Hamid Ahmadieh, Farnaz Soleimani, Ali Karimi, Narsis Daftarian, Sahba Fekri, Tahmineh Motevasseli, Morteza Naderan, Babak Kamali Doust Azad, Abbas Sheikhtaheri, Farid Khorrami, Hemn Baghban Jaldian, Kia Bayat, Saeideh Shahbazi, Mahdi Yazdanpanah, Tahereh Sabbaghi, Kourosh Sheibani, Hadi Ghattan Kashani, Masoud Shariat Panahi, Hamideh Sabbaghi   +19 more
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Genotype-specific retinal and choroidal perfusion patterns in inherited retinal diseases: an SS-OCTA analysis [PDF]

International Journal of Retina and Vitreous
Background Retinitis pigmentosa (RP), an inherited retinal disease, is characterized by progressive vision loss driven by the gradual degeneration of retinal photoreceptors.
Yu Rong, Junfeng Li, Jianquan He, Daowei Zhang, Jiawen Wu, Hongli Liu, Ting Li, Ping Xu, Qing Chang, Jihong Wu   +9 more
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Corneal Biomechanical Changes in Patients with Inherited Retinal Diseases [PDF]

Clinical Ophthalmology
Ana Marta,1,2 André Ferreira,1,3,4 Inês Couto,1 Miguel Mesquita Neves,1 Miguel Gomes,1 Luis Oliveira,1 Celia Azevedo Soares,5– 8 Maria João Menéres,1,2 Carolina Lemos,2,8 João Melo Beirão1,2 1Department of Ophthalmology, Centro Hospitalar Universitário ...
Marta A, Ferreira A, Couto I, Neves MM, Gomes M, Oliveira L, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J   +9 more
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Diagnosis of Inherited Retinal Diseases [PDF]

Klinische Monatsblätter für Augenheilkunde, 2021
AbstractInherited retinal diseases are a frequent cause of severe visual impairment or blindness in children and adults of working age. Across this group of diseases, there is great variability in the degree of visual impairment, the impact on everyday life, disease progression, and the suitability to therapeutic intervention.
Johannes Birtel, Imran H. Yusuf, Claudia Priglinger, Günter Rudolph, Peter Charbel Issa   +4 more
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Functional evaluation in inherited retinal disease [PDF]

British Journal of Ophthalmology, 2021
Functional assessments are a fundamental part of the clinical evaluation of patients with inherited retinal diseases (IRDs). Their importance and impact have become increasingly notable, given the significant breadth and number of clinical trials and studies investigating multiple avenues of intervention across a wide range of IRDs, including gene ...
Malena Daich Varela, Michalis Georgiou, Shaima A Hashem, Richard G Weleber, Michel Michaelides   +4 more
openaire   +3 more sources

Retinal imaging in inherited retinal diseases

Annals of Eye Science, 2020
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population. The advances in ocular genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRD, with the first approved gene therapy and the commencement of multiple therapy trials.
Georgiou, Michalis, Fujinami, Kaoru, Michaelides, Michel   +2 more
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Structural evaluation in inherited retinal diseases [PDF]

British Journal of Ophthalmology, 2021
Ophthalmic genetics is a field that has been rapidly evolving over the last decade, mainly due to the flourishing of translational medicine for inherited retinal diseases (IRD). In this review, we will address the different methods by which retinal structure can be objectively and accurately assessed in IRD. We review standard-of-care imaging for these
Malena Daich Varela, Burak Esener, Shaima A Hashem, Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Michel Michaelides   +5 more
openaire   +3 more sources

Quantification of the early pupillary dilation kinetic to assess rod and cone activity

Scientific Reports, 2021
Rods, cones and melanopsin contribute in various proportions, depending on the stimulus light, to the pupil light response. This study used a first derivative analysis to focus on the quantification of the dynamics of pupillary dilation that immediately ...
Corinne Kostic, Sylvain V. Crippa, Lorette Leon, Christian Hamel, Isabelle Meunier, Aki Kawasaki   +5 more
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Oxidative Stress as a Main Contributor of Retinal Degenerative Diseases

Antioxidants, 2022
Retinal degenerative diseases, including inherited retinal dystrophies (IRDs) and acquired multifactorial diseases, such as age-related macular degeneration (AMD), diabetic retinopathy (DR) or ganglion cell damage secondary to glaucoma or other ...
Isabel Pinilla, Victoria Maneu
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