Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.
Shari JavadiyanSionne E M LucasDechen WangmoMeng NgyKapila EdussuriyaJamie E CraigAdam RudkinRobert CassonDinesh SelvaShiwani SharmaKaren M LowerJames MeuckeKathryn P BurdonPublished in: Molecular genetics & genomic medicine (2018)
This study found that 20%-30% of patients in these countries have a mutation in a known cataract causing gene, which is considerably lower than the 60%-70% reported in Caucasian cohorts. This suggests that additional cataract genes remain to be discovered in this cohort of Asian pediatric cataract patients.