| Identifier |
walsh_2021_s1_c5-abstract |
| Title |
Frizzle Frazzled |
| Creator |
Eric Gaier; Farrah Rajabi; Anne Fulton; Gyula Acsadi; David Waitzman |
| Affiliation |
(EG) (FR) (AF) Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; (GA) Connecticut Children's Medical Center, Hartford, Connecticut; (DW) University of Connecticut Health Center, Farmington, Connecticut |
| Subject |
Papilledema; Idiopathic Intracranial Hypertension (IIH); Ophthalmologic Disorders; Retinal Disorders; Optic Nerve Drusen |
| History |
An otherwise healthy 12-year-old boy originally from Palestine was referred for refractory papilledema secondary to familial IIH. He has a history of fully accommodative esotropia with onset age 2-3. At age 9, elevated optic nerves prompted a neuro-ophthalmic referral. Best corrected visual acuities were subnormal at 20/60 OU. Optic disc drusen were confirmed on fundus autofluorescence but superimposed by papilledema with obscuration of the retinal vessels OD>OS. MRI findings were consistent with elevated intracranial pressure (Figure 1). Lumber puncture showed normal spinal fluid constituents and an opening pressure of 24 cm H2O. He was diagnosed with familial idiopathic intracranial hypertension because his 9-year-old sister presented at the same time with similar neuro-ophthalmic findings and headaches that resolved after lumbar puncture. Oral acetazolamide 375 mg TID (15 mg/kg/day) improved the optic nerve appearance and his visual acuity on follow up. Subsequently, gains in visual acuity reverted to baseline, and his disc appearance worsened. OCT of the macula showed abnormal foveal contour and intraretinal fluid, felt consistent with refractory papilledema. Repeat opening pressure read 26 cm H2O. A second opinion was obtained for consideration of optic nerve sheath fenestration. Subnormal visual acuities of 20/50 OD and 20/40 OS with best correction of +14.00sphere OD and +13.25+0.50x090 OS were noted. Goldmann perimetry showed constricted fields OU with an enlarged blind spot OD and a superonasal defect OS (Figure 2). Examination showed normal anterior segments, 2+ vitreous cells, and nerve fiber layer thickening with blurred optic disc margins and blunted foveal reflexes OU (Figure 3). Scattered, faint tessellated pigmentary changes were noted throughout the mid-peripheral retinae. The patient was discontinued from acetazolamide under consideration of an alternative diagnosis. Fluorescein angiography subsequently showed no leakage from the optic nerve heads but window defects in the inferonasal mid-periphery. A confirmatory diagnostic test was obtained. |
| Disease/Diagnosis |
Posterior Micro-Ophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Nerve Drusen Syndrome secondary to a novel mutation in the gene encoding Membrane-type Frizzled-Related Protein (MFRP) |
| Date |
2021-02 |
| References |
Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, et al. The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. Sci Rep. 2020 Jan 28;10(1):1289. PMID: 31992737 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
53rd Annual Frank Walsh Society Meeting |
| Relation is Part of |
NANOS Annual Meeting Frank B. Walsh Sessions; 2021 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh Session Annual Meeting Archives: https://novel.utah.edu/Walsh/ |
| 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/s6pk6f1p |
| Setname |
ehsl_novel_fbw |
| ID |
1694362 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6pk6f1p |
