Ophthalmic findings in Poretti-Boltshauser syndrome: A case report and comprehensive literature review

Abstract:

Poretti-Boltshauser syndrome (PBS) is a rare autosomal recessive neurodevelopmental disorder caused by pathogenic variants in the laminin subunit alpha 1 gene ( LAMA1 ) and characterized by cerebellar dysplasia, developmental delay, and variable ocular manifestations. We report an 8-year-old boy, born to second-degree consanguineous parents, who was referred for ophthalmic evaluation because of intermittent right eye deviation since infancy. He also had developmental delay and stereotyped hand movements. Comprehensive ophthalmic assessment, including orthoptic evaluation, cycloplegic refraction, slit-lamp biomicroscopy, dilated fundus examination, fundus autofluorescence (FAF), fluorescein angiography, spectral-domain optical coherence tomography of the macula and retinal nerve fiber layer, optical coherence tomography angiography, and electroretinography, demonstrated strabismus and pigmentary retinopathy. Brain magnetic resonance imaging showed characteristic cerebellar dysplasia. Whole-exome sequencing identified a homozygous pathogenic variant in LAMA1 , confirming the diagnosis of PBS. The patient remains under multidisciplinary follow-up. This case emphasizes the value of genetic testing in children with unexplained neuro-ophthalmic features, particularly when strabismus, retinal changes, developmental delay, and cerebellar abnormalities coexist. Early recognition of PBS facilitates appropriate surveillance, multidisciplinary management, and genetic counseling. This report adds quantitative peripapillary retinal nerve fiber layer measurements and FAF findings to the evolving multimodal ophthalmic phenotype of PBS.