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Anderson-Fabry Disease: Focus on Ophthalmological Implications.
Life (Basel)
November 2024
Rare, Degenerative and Inflammatory Ocular Diseases Unit, Department of Sense Organs, La Sapienza University, Viale del Policlinico 155, 00161 Rome, Italy.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward.
View Article and Find Full Text PDFNovel Intragenic and Genomic Variants Highlight the Phenotypic Variability in -Related Disease.
Genes (Basel)
December 2024
Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.
: Disruption of results in microphthalmia with linear skin lesions (MLS) characterized by microphthalmia/anophthalmia, corneal opacity, aplastic skin lesions, variable central nervous system and cardiac anomalies, intellectual disability, and poor growth in heterozygous females. Structural variants consisting of chromosomal rearrangements or deletions are the most common variant type, but a small number of intragenic variants have been reported. : Exome sequencing identified variants affecting .
View Article and Find Full Text PDFOxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.
Antioxidants (Basel)
December 2024
Development, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Reactive oxygen species (ROS) within the retina play a key role in maintaining function and cell survival. However, excessive ROS can lead to oxidative stress, inducing dysregulation of metabolic and inflammatory pathways. The zebrafish models choroideremia (CHM), an X-linked chorioretinal dystrophy, which predominantly affects the photoreceptors, retinal pigment epithelium (RPE), and choroid.
View Article and Find Full Text PDFPhosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDF[New Advances in the Study of VEXAS Syndrome --Review].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Department of Hematology, Zhongda Hospital Affiliated to Southeast University, Nanjing 210009, Jiangsu Province, China.
Article Synopsis
- VEXAS syndrome is an adult-onset autoinflammatory disorder linked to somatic mutations in the X-linked gene affecting the ubiquitin system.
- Patients exhibit a variety of symptoms, including fever, inflammation, and hematological issues like anemia and thrombocytopenia, leading to high morbidity and mortality.
- Current treatments focus on managing symptoms and mutations but are not well-developed, emphasizing the need for supportive care and risk factor management.
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