Overview

RS is an inherited early onset macular degeneration affecting males.[1,2] RS1, the gene that is mutated in RS, encodes a 224-amino acid protein called retinoschisin. As a member of a family of cell adhesion proteins, retinoschisin may maintain cellular organization and synaptic structure of the retina. Retinoschisin contains a highly conserved carboxy-terminal discoidin domain in which mutations cluster, suggesting that the domain is essential for normal function. A number of missense and protein-truncating mutations of RS1 have been identified; truncation or nonexpression of retinoschisin appears to have greater clinical severity.[3]

Molecular genetic analysis of RS1 can complement fundus examination and clinical diagnostic testing of at-risk individuals. Mutation analysis may provide a definitive diagnosis where clinical tests and fundus examination are not sufficient to make a diagnosis. Carrier testing can be accomplished by either mutation analysis or linkage analysis with closely linked markers. This can be practically accomplished when sequence analysis has not yet identified a mutation in a particular family. Patients and families should be offered the opportunity of discussing these issues of testing with a genetic counselor.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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