| Identifier |
20240303_nanos_posters_122 |
| Title |
Outer Retinal Tubulations in Boucher-Neuhäuser Syndrome |
| Creator |
Joshua Kepler; Jordan Petersen; Ahmed Hagag; Richard Weleber; Terry Wood |
| Affiliation |
(JK) (JP) University of Hawaii John A. Burns School of Medicine; (AH) (RW) Oregon Health and Science University; (TW) Hawaiian Eye Center |
| Subject |
Diagnostic Tests (ERG, VER, OCT, HRT, mfERG, etc); Genetic Disease; Retina |
| Description |
We present the case of a 20-year-old female with complaints of worsening peripheral and night vision. A thorough history reveals hypogonadotropic hypogonadism without ataxia, growth abnormalities, or intellectual impairment. Whole exome sequencing reveals compound heterozygous mutations in PNPLA6, consistent with Boucher-Neuhäuser syndrome (BNS). BNS falls under the PNPLA6 neurodegeneration spectrum and classically presents with a triad of cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. 1,2 |
| Date |
2024-03 |
| References |
1. Boucher RJ, Gibberd FB. Familial Ataxia, Hypogonadism and Retinal Degeneration. Acta Neurol Scand. 1969;45(4):507-510. doi:10.1111/j.1600-0404.1969.tb01261.x 2. Neuhäuser G, Opitz JM. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet. 2008;7(5):426-434. doi:10.1111/j.1399-0004.1975.tb00353.x 3. Zweifel SA, Engelbert M, Laud K, Margolis R, Spaide RF, Freund KB. Outer Retinal Tubulation: A Novel Optical Coherence Tomography Finding. Arch Ophthalmol. 2009;127(12):1596-1602. doi:10.1001/archophthalmol.2009.326 4. O'Neil E, Serrano L, Scoles D, et al. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia. Ophthalmic Genet. 2019;40(3):267-275. doi:10.1080/13816810.2019.1605392 5. Deik A, Johannes B, Rucker JC, et al. Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with lateonset ataxia. J Neurol. 2014;261(12):2411-2423. doi:10.1007/s00415-014-7516-3 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2024 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2024: Poster Session: Descriptive Studies 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 2024. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s69d0tzn |
| Setname |
ehsl_novel_nam |
| ID |
2593962 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s69d0tzn |
