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

Year: 2025

Type: article

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.

Source: Saudi Journal of Ophthalmology

DOI: 10.4103/sjopt.sjopt_223_24

Authors: Maryam A. Almohsen, Ahmed E. Alasal, Hasan F. Jamal

Institution: Salmaniya Medical Complex

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4407802883