Poretti-Boltshauser syndrome (PBS) is caused by LAMA1 (laminin1) (OMIM 150320) mutations and manifests with neurologic and ocular abnormalities, including retinal abnormalities previously described as “retinal dystrophy,”1 atrophic and pigmentary changes, and/or lattice degeneration.2 Basic science research and animal model literature suggest a role for LAMA1 mutations in retinal vasculopathy.3,4 However, to our knowledge, there are no prior reports evaluating the retinal vasculature in humans with LAMA1 mutation. Herein, we report siblings with PBS who exhibited a retinal phenotype similar to familial exudative vitreoretinopathy (FEVR) with widespread retinal avascularity and, in 1 sibling, retinal neovascularization. These cases suggest a role for LAMA1 in retinal vascular disease and as a potential novel locus for FEVR.
Marlow E, Chan RVP, Oltra E, Rusu I, Gupta MP. Retinal Avascularity and Neovascularization Associated With LAMA1 (laminin1) Mutation in Poretti-Boltshauser Syndrome. JAMA Ophthalmol. 2018;136(1):96–97. doi:10.1001/jamaophthalmol.2017.5060
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