PAX6 aniridia syndrome: clinics, genetics, and therapeutics
HT Lim, DH Kim, H Kim - Current opinion in ophthalmology, 2017 - journals.lww.com
HT Lim, DH Kim, H Kim
Current opinion in ophthalmology, 2017•journals.lww.comAniridia is a challenging disease. The progressive nature of this condition and its potential
complications require continuous and life-long ophthalmologic care. Genetic diagnosis for
aniridia is important for establishing definitive molecular characterization as well as
identifying individuals at high risk for Wilms tumor. Recent advancement in understanding
the genetic pathogenesis of this disease offers promise for the approaches to treatment.
complications require continuous and life-long ophthalmologic care. Genetic diagnosis for
aniridia is important for establishing definitive molecular characterization as well as
identifying individuals at high risk for Wilms tumor. Recent advancement in understanding
the genetic pathogenesis of this disease offers promise for the approaches to treatment.
Summary
Aniridia is a challenging disease. The progressive nature of this condition and its potential complications require continuous and life-long ophthalmologic care. Genetic diagnosis for aniridia is important for establishing definitive molecular characterization as well as identifying individuals at high risk for Wilms tumor. Recent advancement in understanding the genetic pathogenesis of this disease offers promise for the approaches to treatment.
Lippincott Williams & Wilkins