Optical coherence tomography findings in three patients with Werner syndrome
Abstract Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common op...
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| Format: | Article |
| Language: | English |
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BMC
2022-11-01
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| Series: | BMC Ophthalmology |
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| Online Access: | https://doi.org/10.1186/s12886-022-02660-z |
| _version_ | 1828127983711289344 |
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| author | Tatsuya Nagai Hirotaka Yokouchi Gen Miura Masaya Koshizaka Yoshiro Maezawa Toshiyuki Oshitari Koutaro Yokote Takayuki Baba |
| author_facet | Tatsuya Nagai Hirotaka Yokouchi Gen Miura Masaya Koshizaka Yoshiro Maezawa Toshiyuki Oshitari Koutaro Yokote Takayuki Baba |
| author_sort | Tatsuya Nagai |
| collection | DOAJ |
| description | Abstract Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images. |
| first_indexed | 2024-04-11T15:57:58Z |
| format | Article |
| id | doaj.art-6c9549656ef343e8b2362f33295d69bb |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-04-11T15:57:58Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-6c9549656ef343e8b2362f33295d69bb2022-12-22T04:15:06ZengBMCBMC Ophthalmology1471-24152022-11-012211710.1186/s12886-022-02660-zOptical coherence tomography findings in three patients with Werner syndromeTatsuya Nagai0Hirotaka Yokouchi1Gen Miura2Masaya Koshizaka3Yoshiro Maezawa4Toshiyuki Oshitari5Koutaro Yokote6Takayuki Baba7Department of Ophthalmology and Visual Science, Chiba University Graduate School of MedicineDepartment of Ophthalmology and Visual Science, Chiba University Graduate School of MedicineDepartment of Ophthalmology and Visual Science, Chiba University Graduate School of MedicineDepartment of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of MedicineDepartment of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of MedicineDepartment of Ophthalmology and Visual Science, Chiba University Graduate School of MedicineDepartment of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of MedicineDepartment of Ophthalmology and Visual Science, Chiba University Graduate School of MedicineAbstract Background Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. Early onset of bilateral cataracts is currently used as the ophthalmological feature for Werner syndrome; however, ophthalmologists often find performing a detailed examination of the medical history and genetic testing for Werner syndrome at the time of an ophthalmologic consultation challenging. If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. Case presentation We documented the cases of three patients with Werner syndrome in whom thinning of the retina in the retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) were observed using optical coherence tomography (OCT). Visual field tests revealed the loss of visual field mainly owing to glaucoma. The thinnig of the choroidal thickness (CT) in three patients was also observed using enhanced depth imaging (EDI)-OCT. Conclusions Three patients have thinning of the RNFL, GCC, and choroidal thickness and the loss of visual field. These findings suggest the need for including Werner syndrome in the differential diagnosis when patients presenting with juvenile cataracts of unknown cause also show abnormal retinal and choroidal thinning in the OCT images.https://doi.org/10.1186/s12886-022-02660-zWerner syndromeOptical coherence tomography (OCT)Retinal thicknessChoroidal thicknessJuvenile cataracts |
| spellingShingle | Tatsuya Nagai Hirotaka Yokouchi Gen Miura Masaya Koshizaka Yoshiro Maezawa Toshiyuki Oshitari Koutaro Yokote Takayuki Baba Optical coherence tomography findings in three patients with Werner syndrome BMC Ophthalmology Werner syndrome Optical coherence tomography (OCT) Retinal thickness Choroidal thickness Juvenile cataracts |
| title | Optical coherence tomography findings in three patients with Werner syndrome |
| title_full | Optical coherence tomography findings in three patients with Werner syndrome |
| title_fullStr | Optical coherence tomography findings in three patients with Werner syndrome |
| title_full_unstemmed | Optical coherence tomography findings in three patients with Werner syndrome |
| title_short | Optical coherence tomography findings in three patients with Werner syndrome |
| title_sort | optical coherence tomography findings in three patients with werner syndrome |
| topic | Werner syndrome Optical coherence tomography (OCT) Retinal thickness Choroidal thickness Juvenile cataracts |
| url | https://doi.org/10.1186/s12886-022-02660-z |
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