Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation
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 v...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2017/5310924 |
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| author | Xun Wang Cong Zheng Wen Liu Hui Yang |
| author_facet | Xun Wang Cong Zheng Wen Liu Hui Yang |
| author_sort | Xun Wang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-bc5b187fe7e24eb7aa910df2ff61db9a |
| institution | Kabale University |
| issn | 2090-6722 2090-6730 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-bc5b187fe7e24eb7aa910df2ff61db9a2025-02-03T01:11:08ZengWileyCase Reports in Ophthalmological Medicine2090-67222090-67302017-01-01201710.1155/2017/53109245310924Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene MutationXun Wang0Cong Zheng1Wen Liu2Hui Yang3Department of Fundus Diseases, Zhongshan Ophthalmic Center, Sun Yat-Sen University, 54 S. Xianlie Road, Guangzhou 510060, ChinaDepartment of Fundus Diseases, Zhongshan Ophthalmic Center, Sun Yat-Sen University, 54 S. Xianlie Road, Guangzhou 510060, ChinaDepartment of Fundus Diseases, Zhongshan Ophthalmic Center, Sun Yat-Sen University, 54 S. Xianlie Road, Guangzhou 510060, ChinaDepartment of Fundus Diseases, Zhongshan Ophthalmic Center, Sun Yat-Sen University, 54 S. Xianlie Road, Guangzhou 510060, ChinaTo 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.http://dx.doi.org/10.1155/2017/5310924 |
| spellingShingle | Xun Wang Cong Zheng Wen Liu Hui Yang Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation Case Reports in Ophthalmological Medicine |
| title | Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation |
| title_full | Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation |
| title_fullStr | Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation |
| title_full_unstemmed | Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation |
| title_short | Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation |
| title_sort | retinitis pigmentosa and bilateral idiopathic demyelinating optic neuritis in a 6 year old boy with ofd1 gene mutation |
| url | http://dx.doi.org/10.1155/2017/5310924 |
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