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Article
Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families
To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.
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Article
Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing
Autosomal recessive bestrophinopathy (ARB), a retinal degenerative disease, is characterized by central visual loss, yellowish multifocal diffuse subretinal deposits, and a dramatic decrease in the light peak ...
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Article
Open AccessLong-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients
Retinitis pigmentosa is a common genetic disease that causes retinal degeneration and blindness for which there is currently no curable treatment available. Vision preservation was observed in retinitis pigmen...
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Article
Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology
Usher syndrome (USH) is the most common cause of combined blindness and deafness inherited in an autosomal recessive mode. Molecular diagnosis is of great significance in revealing the molecular pathogenesis a...
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Article
Open AccessErratum to: A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family
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Article
Open AccessA novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family
Previous studies indicated that hyperlipidemia was associated with retinitis pigmentosa (RP). We aimed to identify the mutations in the C5L2 gene which was reported to be associated with hyperlipidemia in a Ch...
