Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome
The aim of this study is to describe bilateral optic disc swelling in three consecutive patients with Blau syndrome or cryopyrin-associated periodic syndrome at a single institution. Case 1 was a 30-year-old woman receiving 25 mg etanercept twice weekly who had been diagnosed as early-onset sarcoido...
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MDPI AG
2021-12-01
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| Series: | Life |
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| Online Access: | https://www.mdpi.com/2075-1729/11/12/1433 |
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| author | Toshihiko Matsuo Masato Yashiro Osamu Yamasaki Takehiro Tanaka Akira Manki |
| author_facet | Toshihiko Matsuo Masato Yashiro Osamu Yamasaki Takehiro Tanaka Akira Manki |
| author_sort | Toshihiko Matsuo |
| collection | DOAJ |
| description | The aim of this study is to describe bilateral optic disc swelling in three consecutive patients with Blau syndrome or cryopyrin-associated periodic syndrome at a single institution. Case 1 was a 30-year-old woman receiving 25 mg etanercept twice weekly who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 5 months old and genetically diagnosed with Blau syndrome with <i>CARD15</i>/<i>NOD2</i> mutation (N670K) at 13 years old. At 10 years old, she began to have uveitis with optic disc swelling in both eyes, resulting in macular degeneration and optic disc atrophy at 17 years old only when etanercept was introduced. Case 2 was a 21-year-old man receiving adalimumab every 2 weeks who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 1.5 years old and genetically diagnosed as Blau syndrome with <i>CARD15</i>/<i>NOD2</i> mutation (C495Y) at 5 years old. At 8 years old, around the time of adalimumab introduction, he began to show bilateral optic disc swelling which continued until the age of 16 years when the dose of adalimumab was increased. Case 3 was a 20-year-old woman receiving canakinumab every 8 weeks for systemic symptoms such as fever, headache, vomiting, and abdominal pain and later for sensorineural hearing disturbance on both sides. She had been diagnosed genetically with cryopyrin-associated periodic syndrome with <i>NLRP3</i> mutation (Y859C) at 7 years old. At 5 years old, she was found to have bilateral optic disc swelling, which continued until the age of 10 years when she began receiving canakinumab (IL-1β inhibitor). Bilateral optic disc swelling might be tentatively designated as a plausible common ocular feature, if it occurred, in autoinflammatory diseases to pay more attention to ophthalmic complications in rare diseases. |
| first_indexed | 2024-03-10T03:43:18Z |
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| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-10T03:43:18Z |
| publishDate | 2021-12-01 |
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| record_format | Article |
| series | Life |
| spelling | doaj.art-be6532a4ab064fb594e4fbddad662fef2023-11-23T09:15:26ZengMDPI AGLife2075-17292021-12-011112143310.3390/life11121433Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic SyndromeToshihiko Matsuo0Masato Yashiro1Osamu Yamasaki2Takehiro Tanaka3Akira Manki4Graduate School of Interdisciplinary Science and Engineering in Health Systems, Okayama University, Okayama City 700-8558, JapanDepartment of Pediatrics, Okayama University Hospital, Okayama City 700-8558, JapanMelanoma Center, Department of Dermatology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University, Okayama City 700-8558, JapanDepartment of Pathology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University, Okayama City 700-8558, JapanDepartment of Pediatrics, Okayama City Hospital, Okayama City 700-8557, JapanThe aim of this study is to describe bilateral optic disc swelling in three consecutive patients with Blau syndrome or cryopyrin-associated periodic syndrome at a single institution. Case 1 was a 30-year-old woman receiving 25 mg etanercept twice weekly who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 5 months old and genetically diagnosed with Blau syndrome with <i>CARD15</i>/<i>NOD2</i> mutation (N670K) at 13 years old. At 10 years old, she began to have uveitis with optic disc swelling in both eyes, resulting in macular degeneration and optic disc atrophy at 17 years old only when etanercept was introduced. Case 2 was a 21-year-old man receiving adalimumab every 2 weeks who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 1.5 years old and genetically diagnosed as Blau syndrome with <i>CARD15</i>/<i>NOD2</i> mutation (C495Y) at 5 years old. At 8 years old, around the time of adalimumab introduction, he began to show bilateral optic disc swelling which continued until the age of 16 years when the dose of adalimumab was increased. Case 3 was a 20-year-old woman receiving canakinumab every 8 weeks for systemic symptoms such as fever, headache, vomiting, and abdominal pain and later for sensorineural hearing disturbance on both sides. She had been diagnosed genetically with cryopyrin-associated periodic syndrome with <i>NLRP3</i> mutation (Y859C) at 7 years old. At 5 years old, she was found to have bilateral optic disc swelling, which continued until the age of 10 years when she began receiving canakinumab (IL-1β inhibitor). Bilateral optic disc swelling might be tentatively designated as a plausible common ocular feature, if it occurred, in autoinflammatory diseases to pay more attention to ophthalmic complications in rare diseases.https://www.mdpi.com/2075-1729/11/12/1433autoinflammatory diseasesBlau syndromeMuckle-Wells syndromeCINCA/NOMID syndromecryopyrin-associated periodic syndromesoptic disc swelling (optic papillitis) |
| spellingShingle | Toshihiko Matsuo Masato Yashiro Osamu Yamasaki Takehiro Tanaka Akira Manki Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome Life autoinflammatory diseases Blau syndrome Muckle-Wells syndrome CINCA/NOMID syndrome cryopyrin-associated periodic syndromes optic disc swelling (optic papillitis) |
| title | Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome |
| title_full | Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome |
| title_fullStr | Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome |
| title_full_unstemmed | Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome |
| title_short | Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome |
| title_sort | bilateral optic disc swelling as a plausible common ocular sign of autoinflammatory diseases report of three patients with blau syndrome or cryopyrin associated periodic syndrome |
| topic | autoinflammatory diseases Blau syndrome Muckle-Wells syndrome CINCA/NOMID syndrome cryopyrin-associated periodic syndromes optic disc swelling (optic papillitis) |
| url | https://www.mdpi.com/2075-1729/11/12/1433 |
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