An article was recently published in the journal Clinical Ophthalmology regarding a new study comparing the visual acuity in aniridia vs. WAGR syndrome. Here is a plain language summary of the article, with a link to the full article below.
Visual function varies greatly among persons with aniridia. Historically, the factors that determine the level of visual function has been poorly understood. It would be helpful down the road to be able to predict with some measure of accuracy how the level of visual function that may occur (phenotype) is related to a specific type of genetic mutation (genotype).
This paper seeks to understand the relationship between type of mutation in aniridia and level of visual function. In order to do so, 25 aniridia patients with nonsense mutations in PAX6 were compared with 25 WAGR patients with large deletions including PAX6. These patients were age and gender matched to ensure that the comparisons were meaningful. Visual acuity between the two groups was statistically analyzed to determine whether there is a significant difference between visual acuity in aniridia and WAGR syndrome.
Average visual acuity was significantly worse in WAGR syndrome vs aniridia due to a nonsense mutation. Average for aniridia in the better seeing eye was an acuity of 20/125, whereas the average for WAGR syndrome in the better seeing eye was 20/500.
There was a statistically significant difference in the visual acuity between the two eyes of the aniridia patients. In WAGR patients, a trend was shown for differences between the two eyes, but it was small enough to not be statistically significant.
This is an interesting start to determining the role of the specific mutation or deletion in visual function. This study also highlights the value of the WAGR syndrome CoRDS registry. Lastly, this study underscores the importance of discovering the factors that cause decreased visual acuity in specific genotypes, so as to improve outcomes for people with aniridia and WAGR syndrome.
The full text of this article can be viewed at the link below.