Abstract
Purpose :
To describe genetic and clinical findings in a Tunisian family harboring different phenotypes linked to BEST 1 mutation.
Methods :
We performed a clinical and molecular genetic study of a non-consanguineous Tunisian family with four patients presenting different phenotypes of retinal dystrophies. DNA sample from the index patient was subjected to whole exome sequencing (WES). Variants were validated by Sanger sequencing. Familial segregation was performed.
Results :
The proband was 26-year-old female with a vision of 0.4 in both eyes. No anterior segment abnormalities were observed. Fundus image revealed yellowish white sub-retinal deposits concentrated around the posterior pole and along vascular arcade. One affected brother presented with similar clinical features but the yellowish lesions were present in the posterior pole and the superior mid peripheral retina. The other affected brother had yellowish, vitelliform deposits in the macula exhibiting a pseudohypopyon appearance.The father had bilateral central macular atrophy. Molecular analysis revealed in all affected patients heterozygous mutation p.[176F] in BEST1.
Conclusions :
Our study provides more insight into the clinical variability of BEST1mutations showing that despite different phenotypes, the patients' genotype could lead to the same mutation. This could be explained by the presence of other factors contributing to a different expression of the same mutation even in the same family.
This is a 2020 ARVO Annual Meeting abstract.