Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant.

Conclusions: Herein, we report the first occurrence of nanophthalmos in the Roma population. We have identified pseudodominant inheritance for this phenotype caused by a novel variant in PRSS56, representing a possible founder effect. Despite advances in genetic technologies such as exome sequencing, careful phenotype evaluation in patients from an isolated population, along with an awareness of population-specific founder effects, is necessary to ensure that accurate molecular diagnoses are made. PMID: 32454992 [PubMed]
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research