Bone-spicule pattern in retinitis pigmentosa
Bone spicules constitute one element of the triad of characteristic symptoms found in the eye fundus of patients with retinitis pigmentosa. More than 70 genes are linked to retinitis pigmentosa through mutations. However, the disease may not always show symptoms or can present in ways that deviate f...
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| Language: | English |
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Termedia Publishing House
2024-12-01
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| Series: | Klinika Oczna |
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| Online Access: | https://www.termedia.pl/Bone-spicule-pattern-in-retinitis-pigmentosa,124,55390,1,1.html |
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| author | Krzysztof Eder Rafał Leszczyński Ewa Mrukwa-Kominek Paulina Langosz Sebastian Sirek |
| author_facet | Krzysztof Eder Rafał Leszczyński Ewa Mrukwa-Kominek Paulina Langosz Sebastian Sirek |
| author_sort | Krzysztof Eder |
| collection | DOAJ |
| description | Bone spicules constitute one element of the triad of characteristic symptoms found in the eye fundus of patients with retinitis pigmentosa. More than 70 genes are linked to retinitis pigmentosa through mutations. However, the disease may not always show symptoms or can present in ways that deviate from the classic clinical picture. The occurrence of the disease is not due to damage in a single metabolic pathway. Rather, it is a multifactorial pathophysiological process involving the failure of various cellular regulatory mechanisms and the presence of histopathological changes. The macroscopic image of the fundus is a result of the migration of cells from damaged retinal pigment epithelium, which is additionally characterized by abnormalities at the cytological level. The specific taxic factors triggering the distinct pattern of cell migration in this disease remain unclear. Based on the available literature there is no direct correlation between the presence of bone spicules in the eye fundus and the decline in visual acuity associated with retinitis pigmentosa. |
| format | Article |
| id | doaj-art-a86c0b46583c4689bdfa3bd1dcde6628 |
| institution | Kabale University |
| issn | 0023-2157 2719-3209 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Klinika Oczna |
| spelling | doaj-art-a86c0b46583c4689bdfa3bd1dcde66282025-01-24T13:03:05ZengTermedia Publishing HouseKlinika Oczna0023-21572719-32092024-12-01126417317810.5114/ko.2024.14604055390Bone-spicule pattern in retinitis pigmentosaKrzysztof EderRafał LeszczyńskiEwa Mrukwa-KominekPaulina LangoszSebastian SirekBone spicules constitute one element of the triad of characteristic symptoms found in the eye fundus of patients with retinitis pigmentosa. More than 70 genes are linked to retinitis pigmentosa through mutations. However, the disease may not always show symptoms or can present in ways that deviate from the classic clinical picture. The occurrence of the disease is not due to damage in a single metabolic pathway. Rather, it is a multifactorial pathophysiological process involving the failure of various cellular regulatory mechanisms and the presence of histopathological changes. The macroscopic image of the fundus is a result of the migration of cells from damaged retinal pigment epithelium, which is additionally characterized by abnormalities at the cytological level. The specific taxic factors triggering the distinct pattern of cell migration in this disease remain unclear. Based on the available literature there is no direct correlation between the presence of bone spicules in the eye fundus and the decline in visual acuity associated with retinitis pigmentosa.https://www.termedia.pl/Bone-spicule-pattern-in-retinitis-pigmentosa,124,55390,1,1.htmlhistopathology retinitis pigmentosa genetic background bone spicules |
| spellingShingle | Krzysztof Eder Rafał Leszczyński Ewa Mrukwa-Kominek Paulina Langosz Sebastian Sirek Bone-spicule pattern in retinitis pigmentosa Klinika Oczna histopathology retinitis pigmentosa genetic background bone spicules |
| title | Bone-spicule pattern in retinitis pigmentosa |
| title_full | Bone-spicule pattern in retinitis pigmentosa |
| title_fullStr | Bone-spicule pattern in retinitis pigmentosa |
| title_full_unstemmed | Bone-spicule pattern in retinitis pigmentosa |
| title_short | Bone-spicule pattern in retinitis pigmentosa |
| title_sort | bone spicule pattern in retinitis pigmentosa |
| topic | histopathology retinitis pigmentosa genetic background bone spicules |
| url | https://www.termedia.pl/Bone-spicule-pattern-in-retinitis-pigmentosa,124,55390,1,1.html |
| work_keys_str_mv | AT krzysztofeder bonespiculepatterninretinitispigmentosa AT rafałleszczynski bonespiculepatterninretinitispigmentosa AT ewamrukwakominek bonespiculepatterninretinitispigmentosa AT paulinalangosz bonespiculepatterninretinitispigmentosa AT sebastiansirek bonespiculepatterninretinitispigmentosa |