Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations.

Parma, Edward S

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. [electronic resource] - American journal of ophthalmology Nov 2002 - 728-34 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0002-9394

10.1016/s0002-9394(02)01646-x doi


Adolescent
Adult
Alternative Splicing
Child
Child, Preschool
Codon, Terminator--genetics
Collagen Type II--genetics
Connective Tissue Diseases--diagnosis
DNA Mutational Analysis
Exons
Eye Diseases, Hereditary--diagnosis
Female
Genetic Linkage
Humans
Male
Middle Aged
Mutation
Pedigree
Polymerase Chain Reaction
Prospective Studies
Retinal Degeneration--diagnosis
Retinal Detachment--diagnosis
Retinal Vessels--pathology
Retrospective Studies
Syndrome