Albinism study presentation awarded "Best in Show" at American Association for Pediatric Ophthalmology and Strabismus annual meeting

Wed, 05/18/2016 - 13:00

Alina Dumitrescu, MD, presented the group's work at the annual meeting of the American Association for Pediatric Ophthalmology and Strabismus in Vancouver, B.C., April 7, 2016. This work was funded by the Vision for Tomorrow Foundation. The poster entitled "Genotype Phenotype Correlations in Albinism" won a "Best in Show" award and was discussed during a special poster tour. In summary, this study scored over 40 patients with albinism on a 5 point scale based on how many of the typical features of the condition were present, then looked for correlations with genotype (the genetic mutations found on genetic testing). The patients with the highest scores were most likely to have 2 mutations found confirming diagnosis, and mutations were most likely in OCA1 or OCA2, however patients with HPS5 and XLOA also had high scores. Patients with lower scores (milder albinism features) were more likely to have only one mutation found. The conclusion is that either there are mutations that can't be found with current testing which are milder than the usual mutations, or some patients thought to have albinism actually have a different diagnosis.