Ocular symptoms of Saul — Wilson syndrome in children
The genetic Saul — Wilson syndrome is so rare that the very few descriptions of its ocular manifestations available are of high clinical interest. Purpose. To offer a description of the ocular manifestations of the Saul — Wilson syndrome. Material and methods. Two children with a verified diagnosis...
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Real Time Ltd
2022-12-01
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| Series: | Российский офтальмологический журнал |
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| Online Access: | https://roj.igb.ru/jour/article/view/1111 |
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| author | L. V. Kogoleva T. N. Vorontsova Ju. A. Bobrovskaya |
| author_facet | L. V. Kogoleva T. N. Vorontsova Ju. A. Bobrovskaya |
| author_sort | L. V. Kogoleva |
| collection | DOAJ |
| description | The genetic Saul — Wilson syndrome is so rare that the very few descriptions of its ocular manifestations available are of high clinical interest. Purpose. To offer a description of the ocular manifestations of the Saul — Wilson syndrome. Material and methods. Two children with a verified diagnosis of Saul — Wilson syndrome, observed from the age of 3 and 4 (the follow-up period was 6 months to 2.5 years), were subjected to a comprehensive ophthalmological examination. Results. The children, along with characteristic phenotypic manifestations (clubfoot, very short stature, short fingers and toes, hypermobile joints) were found to have a disordered visual system, associated with the particularities of the facial skeleton (exophthalmos or strabismus) and clinical and functional eye disorders: mild hypermetropia, hypermetropic astigmatism, partial complicated cataract. One child was diagnosed with changes in the structure and function of the retina, which indicates a dystrophic process. The diagnosis was genetically verified. Conclusion. Given the rarity of the disease, multiple organ involvement, an uncertain prognosis, an interdisciplinary approach to the management of such patients, constant dynamic monitoring and timely correction of detected disorders is necessary. |
| format | Article |
| id | doaj-art-f70f4f99d3b34fe79270d20fcc3cc1a6 |
| institution | Matheson Library |
| issn | 2072-0076 2587-5760 |
| language | Russian |
| publishDate | 2022-12-01 |
| publisher | Real Time Ltd |
| record_format | Article |
| series | Российский офтальмологический журнал |
| spelling | doaj-art-f70f4f99d3b34fe79270d20fcc3cc1a62025-08-03T19:22:35ZrusReal Time LtdРоссийский офтальмологический журнал2072-00762587-57602022-12-0115412613010.21516/2072-0076-2022-15-4-126-130533Ocular symptoms of Saul — Wilson syndrome in childrenL. V. Kogoleva0T. N. Vorontsova1Ju. A. Bobrovskaya2Helmholtz National Medical Research Center of Eye DiseasesPolyclinic complexHelmholtz National Medical Research Center of Eye DiseasesThe genetic Saul — Wilson syndrome is so rare that the very few descriptions of its ocular manifestations available are of high clinical interest. Purpose. To offer a description of the ocular manifestations of the Saul — Wilson syndrome. Material and methods. Two children with a verified diagnosis of Saul — Wilson syndrome, observed from the age of 3 and 4 (the follow-up period was 6 months to 2.5 years), were subjected to a comprehensive ophthalmological examination. Results. The children, along with characteristic phenotypic manifestations (clubfoot, very short stature, short fingers and toes, hypermobile joints) were found to have a disordered visual system, associated with the particularities of the facial skeleton (exophthalmos or strabismus) and clinical and functional eye disorders: mild hypermetropia, hypermetropic astigmatism, partial complicated cataract. One child was diagnosed with changes in the structure and function of the retina, which indicates a dystrophic process. The diagnosis was genetically verified. Conclusion. Given the rarity of the disease, multiple organ involvement, an uncertain prognosis, an interdisciplinary approach to the management of such patients, constant dynamic monitoring and timely correction of detected disorders is necessary.https://roj.igb.ru/jour/article/view/1111saul — wilson syndromehereditary diseasesgenetic studiesocular symptoms |
| spellingShingle | L. V. Kogoleva T. N. Vorontsova Ju. A. Bobrovskaya Ocular symptoms of Saul — Wilson syndrome in children Российский офтальмологический журнал saul — wilson syndrome hereditary diseases genetic studies ocular symptoms |
| title | Ocular symptoms of Saul — Wilson syndrome in children |
| title_full | Ocular symptoms of Saul — Wilson syndrome in children |
| title_fullStr | Ocular symptoms of Saul — Wilson syndrome in children |
| title_full_unstemmed | Ocular symptoms of Saul — Wilson syndrome in children |
| title_short | Ocular symptoms of Saul — Wilson syndrome in children |
| title_sort | ocular symptoms of saul wilson syndrome in children |
| topic | saul — wilson syndrome hereditary diseases genetic studies ocular symptoms |
| url | https://roj.igb.ru/jour/article/view/1111 |
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