Identifier |
20210220_nanos_posters_041 |
Title |
Pseudopapilledema: A Novel Finding in Hereditary Angiopathy With Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome |
Creator |
Shira Simon; Nicholas Volpe; Gabor Deak; Susan Quaggin; Lee Jampol |
Affiliation |
(SS) (NV) (GD) (SQ) (LJ) Northwestern Memorial Hospital, Chicago, Illinois |
Subject |
Genetic Disease; Neuro-ophthalmology & Systemic Disease (eg. MS, MG, Thyroid); Pseudotumor Cerebri |
Description |
Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome is a recently described autosomal dominant disorder resulting from COL4A1 mutations. Collagen 4 is common in basement membranes. Abnormal, highly tortuous retinal vessels have been described in affected pedigrees along with intracranial aneurysms, and renal cysts. No optic nerve pathology has previously been described with this entity. |
Date |
2021-02 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2021 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS Annual Meeting 2021: Poster Session I: Neuro-Ophthalmic Disorders of Neurologic and Systemic Diseases |
Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
Publisher |
North American Neuro-Ophthalmology Society |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
Copyright 2021. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6g799cb |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
1675723 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6g799cb |