The inheritance and some developmental effects of a new allele of ocular retardation (orJ) are described. Affected animals or 12 days of gestation, show reduced cell death in the eye cup and thickening of the inner wall of the optic fissure. At 11 to 13 dyas of gestation orJ/orJ eyes grafted to the testis do not produce retina as their orJ+ littermates do. Adult animals have small eyes with closed lids, abnormal retinal layers, and no optic nerve.
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http://dx.doi.org/10.1007/BF00346288 | DOI Listing |
Hum Mol Genet
January 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Xuhui District, Shanghai 200031, China.
Primary open-angle glaucoma (POAG), known as a common ocular disease with genetic heterogeneity, is characterized by progressive optic disc atrophy and visual field defects. This study aimed to assess the contribution of previously reported POAG-associated genes and investigate potential functional variations and genotype-phenotype correlations in a Han Chinese population. DNA from 500 cases and 500 controls was pooled and sequenced using a customized panel of 398 candidate genes.
View Article and Find Full Text PDFEye Vis (Lond)
January 2025
National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, China.
Background: Keratoconus (KC) is a prevalent corneal condition with a modest genetic basis. Recent studies have reported significant genetic associations in multi-ethnic cohorts. However, the situation in the Chinese population remains unknown.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
December 2024
The Sichuan Provincial Key Laboratory for Human Disease Gene Study and Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Purpose: N6-methyladenosine (m6A) modification, one of the most common epigenetic modifications in eukaryotic mRNA, has been shown to play a role in the development and function of the mammalian nervous system by regulating the biological fate of mRNA. METTL3, the catalytically active component of the m6A methyltransferase complex, has been shown to be essential in development of in the retina. However, its role in the mature retina remains elusive.
View Article and Find Full Text PDFJ Genet Genomics
December 2024
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou, Guangdong 510275, China; Key Laboratory of Reproductive Medicine of Guangdong Province, the First Affiliated Hospital and School of Life Sciences, Sun Yat-sen University, Guangzhou, Guangdong 510275, China. Electronic address:
Mutations in the Rhodopsin (RHO) gene are the main cause of autosomal dominant retinitis pigmentosa (adRP), 84% of which are pathogenic gain-of-function point mutations. Treatment strategies for adRP typically involve silencing or ablating the pathogenic allele, while normal RHO protein replacement has no meaningful therapeutic benefit. Here, we present an adenine base editor (ABE)-mediated therapeutic approach for adRP caused by RHO point mutations in vivo.
View Article and Find Full Text PDFOphthalmic Genet
December 2024
Department of Ophthalmology, Hôpital Intercommunal de Créteil, Créteil, France.
Background: Neurofibromatosis type 1 is an autosomal dominant disorder predisposing to numerous tumors. Sporadic mutations account for half of the cases. They can occur on a mosaic pattern, which might remain undiagnosed, depending on the clinical phenotype.
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