Ocular Manifestations of Poretti-Boltshauser Syndrome: Findings From Multimodal Imaging and Electrophysiology

Abstract

Background/Purpose: Poretti-Boltshauser syndrome is a rare, nonprogressive neurologic syndrome with characteristic cerebellar cysts on neuroimaging due to mutations in LAMA1. The ophthalmic findings in Poretti-Boltshauser syndrome are not well described. Here, we report the ophthalmic findings from multimodal imaging and electrophysiology of a patient with genetically confirmed Poretti-Boltshauser syndrome.Methods: A 3-year-old boy with confirmed mutations in LAMA1 underwent examination under anesthesia with electroretinography and multimodal imaging including fundus photography, fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography.Results: Dilated fundus examination was notable for retinal vascular anomalies, including a large area of nonperfusion in the temporal macula with corresponding retinal thinning on optical coherence tomography. There was an absence of a distinct foveal avascular zone and decreased density of both the superficial and deep vascular plexuses in the macula on optical coherence tomography angiography. There was diffuse loss of choriocapillaris architecture and decreased choroidal thickness. Conclusion:Patients with Poretti-Boltshauser syndrome may possess chorioretinal thinning and retinal vascular abnormalities appreciable on examination and multimodal imaging. These findings suggest a role for LAMA1 in retinal and choroidal vascular development.

Child with developmental delay and pathological myopia: Poretti–Boltshauser syndrome

“…Cai et al reported a LAMA1 gene mutation positive case of three years old child having refractive error of 16.50 diopter in both eyes and retinal changes including reduced choroidal thickness .Our index case also had similar refractive error but retinal changes were not appreciated. 5 Alahmadi et al also reported similar case in two-and half-year female child. Important findings were delayed crawling and walking, myopia with cycloplegic refraction of -15 diopter bilaterally and severe retinal thinning.…”

Retinal Changes in Poretti–boltshauser Syndrome: Retina as a Window to the Brain

“…However, the electroretinography findings could be affected because of ischemia and myopic degeneration as well. 10 Cai et al 11 had reported a PBS patient with compound heterozygous mutations in LAMA1 with peripheral nonperfusion areas, corresponding retinal thinning, absence of a distinct foveal avascular zone, and diffuse loss of choriocapillaris architecture with decreased choroidal thickness. However, no such avascular areas were noted in our case clinically.…”

World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective

“…The LAMA1 protein is, in particular, involved in the cell-cell and cell-extracellular-matrix adhesion, cell motility, and cell migration. A deficient LAMA1 protein typically results in a disruption of the cerebellar folia, especially [31]. Neuroimaging features of PBS resemble findings seen in α-dystroglyconopathies (cerebellar dysplasia with cysts); however, the clinical presentation in PBS is very different (Figure 14).…”