| Identifier |
walsh_2019_s2_c2-abstract |
| Title |
Unexplained Becomes Explained |
| Creator |
Jinu Han, Hye Young Kim, Sueng-Han Han |
| Subject |
Optic Atrophy; Optic Neuropathy; Hereditary; Cerebral Blindness; Developmental and Congenital Anomalies |
| History |
7 years old male presented to the ophthalmology clinic for the evaluation of low vision. He was born with caesarean section after an uneventful pregnancy at 38 weeks, 4.05kg. The mother denied any perinatal hypoxia, ischemia or head injury during delivery. He first visited pediatric neurology clinic for hypotonia at the age of 6 months. He started to walk when he was 18 months. He showed delayed development and have mild intellectual disability with intelligence quotient (IQ) of about 77-80. He is taking methylphenidate for attention deficit hyperactivity disorders. He can communicate well with others and, he can walk and run without any support. Cycloplegic refraction showed -cyl0.50 axis 180 in the right eye and +sph0.50 -cyl0.50 axis180 in the left eye. His best corrected visual acuity was 20/100 in the both eyes. Extraocular motility examination showed full duction and version. Alternate cover test showed orthophoria at distance and near. When covering one eye, jerk nystagmus beating toward uncovered eye was noted, which is consistent with latent nystagmus. Slit lamp examination showed normal, and dilated fundus examination revealed diffuse optic atrophy in both eyes. Spectral-domain optical coherence tomography showed thinning of retinal nerve fiber layer in both eyes. Electroretinography with skin electrode was performed and the results was inconclusive. Brain magnetic resonance imaging was not remarkable. Biochemistry test showed normal lactate to pyruvic acid ratio. Neurological examination showed normal cerebellar function and gait. Other cranial nerve examination was normal. Further diagnostic testing was then performed. |
| Disease/Diagnosis |
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) |
| Date |
2019-03 |
| References |
1. Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet 2014, 94(2):303-309. 2. Yamaguchi H, Zhou C, Lin SC, Durand B, Tsai SY, et al. The nuclear orphan receptor COUP-TFI is important for differentiation of oligodendrocytes. Developmental biology 2004, 266(2):238-251. 3. Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, el al. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med 2016, 18(11):1143-1150. 4. Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, et al. Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Cold Spring Harb Mol Case Stud 2017, 3(6). 5. Al-Kateb H, Shimony JS, Vineyard M, Manwaring L, Kulkarni S, et al. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Am J Med Genet A 2013,161a(2):377-381. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2019 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2019: Frank B. Walsh Session 2 |
| Collection |
Neuro-Ophthalmology Virtual Education Library - Walsh Session Annual Meeting Archives https://novel.utah.edu/Walsh/index3.html |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-6001 |
| Rights Management |
Copyright 2019. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s65b4km4 |
| Setname |
ehsl_novel_fbw |
| ID |
1431959 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s65b4km4 |
