PNPLA6-related syndromic retinal dystrophy: A genetically confirmed case of Boucher-Neuhauser syndrome from the Kingdom of Bahrain

Abstract A 16-year-old boy presented in the clinic with gradual severe deterioration of vision in both eyes, and while examination revealed severe chorioretinal degeneration bilaterally, other clinical features showed delayed sexual maturation. He underwent genetic testing which revealed a rare PNPLA6 gene defect and was given hormone replacement therapy. PNPLA6-related disorders include several phenotypes in various syndromes with interlapping features mainly due to neurodegeneration involving the brain and neuron development. In this case report, we describe the first case of Boucher-Neuhauser syndrome encountered in the Kingdom of Bahrain and highlight the importance of genetic testing and the need for multidisciplinary efforts that could positively impact patient clinical outcomes.