TY - JOUR
T1 - OCULAR MANIFESTATIONS of PORETTI-BOLTSHAUSER SYNDROME
T2 - FINDINGS from MULTIMODAL IMAGING and ELECTROPHYSIOLOGY
AU - Cai, Cindy X.
AU - Go, Michelle
AU - Kelly, Michael P.
AU - Holgado, Sandra
AU - Toth, Cynthia A.
N1 - Publisher Copyright:
© 2022 Lippincott Williams and Wilkins. All rights reserved.
PY - 2022/5/1
Y1 - 2022/5/1
N2 - 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.
AB - 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.
KW - Poretti-Boltshauser syndrome
KW - electroretinography
KW - fluorescein angiography
KW - optical coherence tomography
KW - optical coherence tomography angiography
KW - pediatric retina
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U2 - 10.1097/ICB.0000000000000991
DO - 10.1097/ICB.0000000000000991
M3 - Article
C2 - 32195884
AN - SCOPUS:85099678900
SN - 1935-1089
VL - 16
SP - 270
EP - 274
JO - Retinal Cases and Brief Reports
JF - Retinal Cases and Brief Reports
IS - 3
ER -