We elucidated the mutation spectrum in Japanese RP patients and demonstrated the validity of the mutation detection system using dHPLC sequencing for genetic diagnosis in RP patients independent of familial incidence, which may provide a model strategy for identifying genetic causes in other diseases linked to a wide range of genes.
A young patient who showed rhegmatogenous retinal detachment with preoperatively undetected retinal break was successfully treated by scleral buckling using a noncontact wide-angle viewing system.
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