Neurofibromatosis Type 2-Related Eye Disease Correlated With Genetic Severity Type

Update Item Information
Title Neurofibromatosis Type 2-Related Eye Disease Correlated With Genetic Severity Type
Creator Sally L. Painter; Zuzana Sipkova; Beatrice Emmanouil; Dorothy Halliday; Allyson Parry; John S. Elston
Affiliation Oxford Eye Hospital (SLP, ZS, JSE), John Radcliffe Hospital, Headley Way, Headington Oxford, United Kingdom; Department of Neurology (BE, AP), John Radcliffe Hospital; and Oxford Centre for Genomic Medicine (DH), Nuffield Orthopaedic Hospital, Oxford, United Kingdom
Abstract Objective: Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological, and neurological signs. Clinical diagnosis is confirmed by neuroimaging and genetic testing. Although ophthalmic features are present in patients with NF2, there are no reports correlating genetic severity subtypes with ophthalmic involvement. Methods: We retrospectively reviewed longitudinal ophthalmological data of 83 patients with NF2, with known genetic severity subtype, to determine visual function over time. We created a scoring system (Oxford NF2 Ophthalmic Score [ONOS]) to quantify visually debilitating pathology. Results: The prevalence of optic atrophy, combined hamartomas, cataract, and epiretinal membranes significantly increased with genetic severity. Median age of survival to visual acuity worse than 1.0 logarithm of minimum angle of resolution in one eye significantly decreased with genetic severity and was 38 years in the genetically severe group, 49 years in moderate classics, 64 years in mild classics, and 84 years in the tissue mosaics. In the genetically severe, the visually damaging pathologies were largely untreatable. The ONOS correlated with genetic severity longitudinally and cross-sectionally. Conclusions: Mutations associated with severe systemic disease result in greater visual morbidity at an earlier age. Those with tissue mosaicism are unlikely to have visually debilitating pathology secondary to NF2. Potentially treatable sources of damage to vision, however, affect all groups and must be identified early and treated effectively to retain useful vision throughout life.
Subject Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Eye Diseases / diagnosis; Eye Diseases / etiology; Eye Diseases / physiopathology; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Male; Meningeal Neoplasms / complications; Meningeal Neoplasms / diagnosis; Meningeal Neoplasms / genetics; Middle Aged; Neurofibromatosis 2 / complications; Neurofibromatosis 2 / diagnosis; Neurofibromatosis 2 / genetics; Optic Disk / pathology; Phenotype; Retrospective Studies; Severity of Illness Index; Visual Acuity; Young Adult
OCR Text Show
Date 2019-03
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, March 2019, Volume 39, Issue 1
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6n9316r
Setname ehsl_novel_jno
ID 1595807
Reference URL https://collections.lib.utah.edu/ark:/87278/s6n9316r
Back to Search Results