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Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation
Joint Authors
Wang, Xun
Zheng, Cong
Liu, Wen
Yang, Hui
Source
Case Reports in Ophthalmological Medicine
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-01-16
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
To identify the cause of a sudden binocular vision decrease in patients with retinitis pigmentosa and bilateral idiopathic demyelinating optic neuritis is difficult, but early diagnosis and treatment significantly improve the prognosis.
Here, we report a 6-year-old boy with a progressive binocular vision decrease in 38 days.
The patient had a history of night blindness, a mottled retina without pigmentation, extinguished electroretinographic response, tritanopia, and an absent ellipsoid zone outside the macula fovea by optical coherence tomography in both eyes.
His condition was diagnosed as retinitis pigmentosa (RP) with idiopathic demyelinating optic neuritis (IDON).
After corticosteroid therapy, visual acuity recovered to OD: 0.5 and OS: 0.4.
Genetic analysis revealed a G985S variant in the oral-facial-digital syndrome 1 gene.
Ophthalmologists should pay attention to the existence of other complications in patients with RP who suffer a sudden decrease in vision.
A gene survey can help clarify this diagnosis.
To our knowledge, this is the first report of a patient with RP and ON, as well as genetic testing results.
Nevertheless, the pathogenicity of the variant needs further confirmation.
American Psychological Association (APA)
Wang, Xun& Zheng, Cong& Liu, Wen& Yang, Hui. 2017. Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation. Case Reports in Ophthalmological Medicine،Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1148009
Modern Language Association (MLA)
Wang, Xun…[et al.]. Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation. Case Reports in Ophthalmological Medicine No. 2017 (2017), pp.1-8.
https://search.emarefa.net/detail/BIM-1148009
American Medical Association (AMA)
Wang, Xun& Zheng, Cong& Liu, Wen& Yang, Hui. Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation. Case Reports in Ophthalmological Medicine. 2017. Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1148009
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148009