New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy by Wen-Chao Cao, Qing-Shan Chen, Run Gan, Tao Huang, Xiao-He Yan

Subjects: Get full text

Rare occult macular dystrophy with a pathogenic variant in the RP1L1 gene in a patient of Swiss descent by Olga Zabek, Ioannis Lamprakis, Annekatrin Rickmann, Giacomo Calzetti, Bence György, Hendrik P.N. Scholl, Maria della Volpe Waizel

Subjects: Get full text

Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family by Yu-He Qi, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Sheng-Hai Zhang, Sheng-Hai Zhang, Jun-Yi Chen, Wan-Jing Huang, Guo-Hong Tian, Min Wang, De-Kang Gan, Ji-Hong Wu, Ji-Hong Wu, Ji-Hong Wu, Ge-Zhi Xu, Ge-Zhi Xu, Ge-Zhi Xu

Subjects: Get full text

Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in <i>rp1l1</i> Mutant Zebrafish by Nicole C. L. Noel, Nathan J. Nadolski, Jennifer C. Hocking, Ian M. MacDonald, W. Ted Allison

Subjects: “…rp1l1…”
Get full text

Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy by Xiao Liu, Yanling Long, Yu Wang, Bo Liu, Jiayun Ren, Gang wang, Min Wang, Xiaohong Meng, Yong Liu

Subjects: Get full text

Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant by Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Paola Carrera, Ivana Spiga, Maria Grazia Patricelli, Francesco Bandello, Maurizio Battaglia Parodi

Subjects: Get full text