Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders by Md Jobair Jony, Ameya Joshi, Alekha Dash, Surabhi Shukla

“…This review delves into introduction of common IRDs such as Leber congenital amaurosis, retinitis pigmentosa, Usher syndrome, macular dystrophies, and choroideremia and critically assesses current treatments including neuroprotective agents, cellular therapy, and gene therapy along with their limitations. …”
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Management of Ocular Diseases Using Lutein and Zeaxanthin: What Have We Learned from Experimental Animal Studies? by Chunyan Xue, Richard Rosen, Adrienne Jordan, Dan-Ning Hu

“…The effects of lutein and zeaxanthin on the prevention and treatment of various eye diseases, including age-related macular degeneration, diabetic retinopathy and cataract, ischemic/hypoxia induced retinopathy, light damage of the retina, retinitis pigmentosa, retinal detachment, and uveitis, have been studied in different experimental animal models. …”
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Targeting Inflammation in Emerging Therapies for Genetic Retinal Disease by Ishaq A. Viringipurampeer, Abu E. Bashar, Cheryl Y. Gregory-Evans, Orson L. Moritz, Kevin Gregory-Evans

“…Genetic retinal diseases such as age-related macular degeneration and monogenic diseases such as retinitis pigmentosa account for some of the commonest causes of blindness in the developed world. …”
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Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

“…Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. …”
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A Y178C rhodopsin mutation causes aggregation and comparatively severe retinal degeneration by Sreelakshmi Vasudevan, Paul S.–H. Park

“…Numerous mutations in rhodopsin promote receptor misfolding and aggregation, causing autosomal dominant retinitis pigmentosa, a progressive retinal degenerative disease. …”
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An Update on the Genetics of Usher Syndrome by José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

“…Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. …”
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Investigating the Causes of Blindness and Vision Impairment in Children Younger Than 15 Years Old by Abbas Riazi, Fatemeh Riazi

“…Congenital retinal diseases include 42% of the causes of blindness and vision impairment in these children. Retinitis pigmentosa 9%, Leber congenital amaurosis (LCA) 8%, albinism <1%, refractive errors 9.5%, cortical visual impairment 13.6%, cataract and glaucoma each alone 7%, corneal opacity 1.7% and non-pathogenic causes, such as trauma <1% were diagnosed. …”
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Overexpression of MiR-183/96/182 Triggers Retina-Like Fate in Human Bone Marrow-Derived Mesenchymal Stem Cells (hBMSCs) in Culture by Mohammad-Reza Mahmoudian-Sani, Fatemeh Forouzanfar, Samira Asgharzade, Nilufar Ghorbani

“…Retinal degeneration is considered as a condition ensued by different blinding disorders such as retinitis pigmentosa, age-related macular degeneration, and diabetic retinopathy, which can cause loss of photoreceptor cells and also lead to significant vision deficiencies. …”
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CRISPR/Cas9, a universal tool for genomic engineering by A. V. Smirnov, A. M. Yunusova, V. A. Lukyanchikova, N. R. Battulin

“…For instance, the CRISPR/Cas9 was recently used to control HIV infection and to repair genetic abnormalities, such as Duchenne muscular dystrophy or retinitis pigmentosa, both in cell cultures and rodent models. …”
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Prevalence, Risk Factors, and Causes of Visual Impairment in an Elderly Chinese Uygur Population in Southern Xinjiang by Yi Sun, Guangming Jin, Mengting Yang, Jing Fu, Xueyi Chen, Bingsheng Lou

“…The major causes of low vision were cataract (42.6%), refractive error (19.6%), and glaucoma (12.6%), whereas the primary causes of blindness were cataract (34%), glaucoma (34%), and retinitis pigmentosa (10%). Conclusions. VI is an important public health issue among elderly Uygur individuals in the area, especially for those with low education levels. …”
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Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants by Xue Fan, Zhen Li, Lingzhi Sha, Xunlun Sheng, Weining Rong

“…These variants are related to clinical phenotypes such as Usher syndrome type II (USH2), Stargardt disease (STGD), retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), and Bardet-Biedl syndrome (BBS) respectively. …”
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Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome by Li Huang, Limei Sun, Zhirong Wang, Songshan Li, Chonglin Chen, Xiaoling Luo, Xiaoyan Ding

“…Both families presented with retinitis pigmentosa; however, except for polydactyly, all other systemic manifestations were different. …”
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Enhanced Visual Attentional Modulation in Patients with Inherited Peripheral Retinal Degeneration in the Absence of Cortical Degeneration by Sónia Ferreira, Andreia Carvalho Pereira, Bruno Quendera, Aldina Reis, Eduardo Duarte Silva, Miguel Castelo-Branco

“…Our study was aimed at determining the effect of genetically determined peripheral retinal dystrophy caused by Retinitis Pigmentosa (RP) on visual cortical function and tested the recruitment of attentional mechanisms using functional magnetic resonance imaging (fMRI). …”
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Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort by Jasmine Y. Serpen, Lev Prasov, Wadih M. Zein, Catherine A. Cukras, Denise Cunningham, Elizabeth C. Murphy, Amy Turriff, Brian P. Brooks, Laryssa A. Huryn

“…While an association between ODD and retinitis pigmentosa has been reported, this study surveys a large cohort of patients with inherited eye conditions and finds the prevalence of superficial ODD is lower than that in the literature. …”
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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

“…Usher syndrome was the most frequent etiology (71.4%) followed by Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract syndrome (6.0%), Autosomal dominant optic atrophy plus (4.8%) and cone-rod dystrophy and hearing loss (4.8%). …”
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Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques by Yu Fujinami-Yokokawa, Nikolas Pontikos, Lizhu Yang, Kazushige Tsunoda, Kazutoshi Yoshitake, Takeshi Iwata, Hiroaki Miyata, Kaoru Fujinami, on behalf of Japan Eye Genetics Consortium

“…To illustrate a data-driven deep learning approach to predicting the gene responsible for the inherited retinal disorder (IRD) in macular dystrophy caused by ABCA4 and RP1L1 gene aberration in comparison with retinitis pigmentosa caused by EYS gene aberration and normal subjects. …”
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