Genetic Basis of Retinitis Punctata Albescens (RPA) and Fundus Albipunctatus (FA): Overlapping Phenotypes and Diagnostic Approaches - Abstract
We reviewed recent scientific literature and clinical guidelines to summarize the clinical utility of genetic testing for Retinitis Punctata Albescens (RPA)
and Fundus Albipunctatus (FA), which are rare forms of inherited retinal dystrophies. Despite overlapping phenotypes, they differ in clinical progression and
genetic etiology, with RLBP1 and RDH5 as primary causative genes. Molecular testing, including next-generation sequencing, whole exome and whole-genome
sequencing, is widely available in accredited laboratories and enables accurate diagnosis. The prevalence of the condition remains largely unknown. Accurate
differentiation between progressive and stationary forms is essential for appropriate clinical management and informed genetic counseling. Moreover,
comprehensive genetic analysis may reveal unexpected findings, including carrier status for unrelated conditions or variants associated with other retinal
disorders. These results underscore the importance of careful interpretation and counseling to support patient management and reduce the risk of disease
transmission.