Stroke with hereditary cerebral small vessel diseases is a rare disease. Its clinical manifestations include early-onset ischemic lacunar or hemorrhagic stroke with high disability. Its typical imaging markers include lacunes, white matter hyperintensities, microbleeds, intracerebral hemorrhages located in deep or lobe of brain, crotical microinfarcts, and enlarged perivascular spaces. As the clinical and neuroimaging signs and symptoms of hereditary cerebral small vessel diseases often overlap with sporadic cerebral small vessel diseases, it is hard to diagnose. This article summarizes the clinical features, importance of obtaining valuable family history, genetic diagnosis, and management of stroke with hereditary cerebral small vessel disease to improve its accuracy diagnosis.
Inherited retinal diseases (IRDs) are the major cause of refractory blinding eye diseases, and gene replacement therapy has already made preliminary progress in the treatment of IRDs. For IRDs that cannot be treated by gene replacement therapy, gene editing provides an alternative therapeutic method. Strategies like disruption of pathogenic variants with or without gene augmentation therapy and precise repair of pathogenic variants can be applied for IRDs with various inheritance patterns and pathogenic variants. In animal models of retinitis pigmentosa, Usher syndrome, Leber congenital amaurosis, cone rod cell dystrophy, and other disorders, CRISPR/Cas9, base editing, and prime editing showed the potential to edit pathogenic variations in vivo, indicating a promising future for gene editing therapy of IRDs.
Optic atrophy,hereditary／diagnosis; Polymerase chain reaction; DNA,mitochondrial; Point mutation; Sequence analysis
Mutations in optic atrophy (OPA) genes can lead to a similar phenotype, namely optic atrophy, which can manifest as isolated optic atrophy or be accompanied by other systemic symptoms, mostly related to the nervous system. Currently, a total of 13 OPA genes have been discovered, covering a variety of inheritance patterns, including chromosomal dominant inheritance, autosomal recessive inheritance, and X-linked inheritance. Through genetic testing and analysis of patients, it is possible to accurately determine whether they carry mutation genes related to optic atrophy, and predict the progression of the disease and potential complications accordingly. This not only provides valuable genetic counseling and fertility planning guidance for patients and their families, but also helps better understand the disease, discover new therapeutic targets, and lay the foundation for developing more precise and effective drugs or gene therapies in the future.