Genetic testing confirmed osteopetrosis with initial presentation of nystagmus
Osteopetrosis (OS) is a rare heritable disorder characterized by osteoclast dysfunction and increased bone density on radiography. Optic nerve osseous compression is the most frequent ocular complication of OS, with nystagmus, strabismus, ptosis, proptosis, and lagophthalmos occurring less frequentl...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-04-01
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| Series: | Taiwan Journal of Ophthalmology |
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| Online Access: | https://journals.lww.com/10.4103/tjo.TJO-D-22-00152 |
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| author | Kai-Yen Chiu Yu-Yang Lin Yao-Lin Liu Ni-Chung Lee Tzu-Hsun Tsai |
| author_facet | Kai-Yen Chiu Yu-Yang Lin Yao-Lin Liu Ni-Chung Lee Tzu-Hsun Tsai |
| author_sort | Kai-Yen Chiu |
| collection | DOAJ |
| description | Osteopetrosis (OS) is a rare heritable disorder characterized by osteoclast dysfunction and increased bone density on radiography. Optic nerve osseous compression is the most frequent ocular complication of OS, with nystagmus, strabismus, ptosis, proptosis, and lagophthalmos occurring less frequently. However, it is uncommon for patients to have neurological or ocular symptoms at initial presentation. Herein, we present the case of a 3-year-old girl with the initial presentation of ocular symptoms who was confirmed to have OS through genetic testing. She was born full-term and found to have nystagmus since the age of 1 year. Her best-corrected visual acuity was 1.2/60 for both eyes. Exotropia of the left eye and bilateral small-amplitude pendular nystagmus were also noted. Color fundoscopy revealed a tessellated fundus and pale discs with cup-to-disc ratios of 0.5–0.6. Magnetic resonance imaging revealed bilateral optic canal stenosis and optic nerve atrophy. Whole-exome sequencing revealed a biallelic chloride voltage-gated channel 7 mutation, c.2297T > C (p.Leu766Pro) and c.1577G > A (p.Arg526Gln), and autosomal recessive OS was diagnosed. The patient is currently being evaluated for possible hematopoietic stem cell transplantation. We suggest that OS should be considered a differential diagnosis for unexplained nystagmus and optic nerve atrophy. |
| format | Article |
| id | doaj-art-c9823637db2e499f9dba2af8d953ca22 |
| institution | OA Journals |
| issn | 2211-5056 2211-5072 |
| language | English |
| publishDate | 2023-04-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Taiwan Journal of Ophthalmology |
| spelling | doaj-art-c9823637db2e499f9dba2af8d953ca222025-08-20T01:48:04ZengWolters Kluwer Medknow PublicationsTaiwan Journal of Ophthalmology2211-50562211-50722023-04-0114343744010.4103/tjo.TJO-D-22-00152Genetic testing confirmed osteopetrosis with initial presentation of nystagmusKai-Yen ChiuYu-Yang LinYao-Lin LiuNi-Chung LeeTzu-Hsun TsaiOsteopetrosis (OS) is a rare heritable disorder characterized by osteoclast dysfunction and increased bone density on radiography. Optic nerve osseous compression is the most frequent ocular complication of OS, with nystagmus, strabismus, ptosis, proptosis, and lagophthalmos occurring less frequently. However, it is uncommon for patients to have neurological or ocular symptoms at initial presentation. Herein, we present the case of a 3-year-old girl with the initial presentation of ocular symptoms who was confirmed to have OS through genetic testing. She was born full-term and found to have nystagmus since the age of 1 year. Her best-corrected visual acuity was 1.2/60 for both eyes. Exotropia of the left eye and bilateral small-amplitude pendular nystagmus were also noted. Color fundoscopy revealed a tessellated fundus and pale discs with cup-to-disc ratios of 0.5–0.6. Magnetic resonance imaging revealed bilateral optic canal stenosis and optic nerve atrophy. Whole-exome sequencing revealed a biallelic chloride voltage-gated channel 7 mutation, c.2297T > C (p.Leu766Pro) and c.1577G > A (p.Arg526Gln), and autosomal recessive OS was diagnosed. The patient is currently being evaluated for possible hematopoietic stem cell transplantation. We suggest that OS should be considered a differential diagnosis for unexplained nystagmus and optic nerve atrophy.https://journals.lww.com/10.4103/tjo.TJO-D-22-00152nystagmusoptic nerve atrophyosteopetrosis |
| spellingShingle | Kai-Yen Chiu Yu-Yang Lin Yao-Lin Liu Ni-Chung Lee Tzu-Hsun Tsai Genetic testing confirmed osteopetrosis with initial presentation of nystagmus Taiwan Journal of Ophthalmology nystagmus optic nerve atrophy osteopetrosis |
| title | Genetic testing confirmed osteopetrosis with initial presentation of nystagmus |
| title_full | Genetic testing confirmed osteopetrosis with initial presentation of nystagmus |
| title_fullStr | Genetic testing confirmed osteopetrosis with initial presentation of nystagmus |
| title_full_unstemmed | Genetic testing confirmed osteopetrosis with initial presentation of nystagmus |
| title_short | Genetic testing confirmed osteopetrosis with initial presentation of nystagmus |
| title_sort | genetic testing confirmed osteopetrosis with initial presentation of nystagmus |
| topic | nystagmus optic nerve atrophy osteopetrosis |
| url | https://journals.lww.com/10.4103/tjo.TJO-D-22-00152 |
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