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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Derivation of two induced pluripotent stem cell lines from a healthy control subject by Dan Zhang, Di Huang, Leon M. Larcher, Khine Zaw, Shang-Chih Chen, Luke Jennings, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Fred K. Chen, Samuel McLenachan

“…Two human induced pluripotent stem cell lines, LEIi021-A and LEIi021-B, were derived from dermal fibroblasts from a healthy control subject from an Australian Aboriginal family with retinitis pigmentosa-11. Reprogramming was performed using episomal vectors expressing OCT4, SOX2, LIN28, L-MYC, KLF4 and mp53DD. …”
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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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Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies by Maria Azam, Beata Jastrzebska

“…Retinitis pigmentosa (RP) is a hereditary disease characterized by progressive vision loss ultimately leading to blindness. …”
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