Laurence-Moon Syndrome: Genetics, Clinical Features, and Management
1. Introduction and Core Definition Laurence-Moon syndrome is an exceedingly rare, complex autosomal recessive genetic disorder that profoundly affects multiple organ systems and neurological pathways. The syndrome is clinically characterized by a highly specific tetrad of primary features: progressive retinal dystrophy leading to vision loss, severe intellectual disability, spastic paraplegia (progressive stiffness and weakness in … Read more