Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report
The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published. The aim of this study is not only to describe a new patien...
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| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2014/285132 |
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| author | Lidia Puchalska-Niedbał Stanisław Zajączek Elżbieta Petriczko Urszula Kulik |
| author_facet | Lidia Puchalska-Niedbał Stanisław Zajączek Elżbieta Petriczko Urszula Kulik |
| author_sort | Lidia Puchalska-Niedbał |
| collection | DOAJ |
| description | The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published. The aim of this study is not only to describe a new patient, but also, for the first time, to present the results of nonoperative management of divergent strabismus. Material and Methods. We present an amblyopic patient with 46,XX, r(15) karyotype: treated conservatively for exotropia of 60 prism diopters. The management consisted of refractive and prismatic correction, eye occlusion, and orthoptic exercises between the age of 15 months and 8 years. Results. The deviation angle of exotropia was decreased to 10 prism diopters, the visual acuity improved to 1.0 in both eyes (Snellen chart) and the fixation pattern was normal. The prisms enabled permanent symmetrical stimulation of the retina, which lead to a development of normal single binocular vision (Maddox test, filter test, and synoptophore tests). Conclusions. Parental karyotype was normal; the analysis of a three-generation pedigree has shown no genetic abnormalities or pregnancy losses so the child’s karyotype anomaly was classified as de novo that is a single occurrence of this type of chromosomal disorder in this family. Strabismus in ring chromosome 15 patients is a difficult condition to manage, although success may be achieved. |
| format | Article |
| id | doaj-art-4d08ebdc5c9d4d3385b0b12bccb2e6d3 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-4d08ebdc5c9d4d3385b0b12bccb2e6d32025-08-20T03:34:18ZengWileyCase Reports in Pediatrics2090-68032090-68112014-01-01201410.1155/2014/285132285132Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case ReportLidia Puchalska-Niedbał0Stanisław Zajączek1Elżbieta Petriczko2Urszula Kulik3Department of Ophthalmology, Pomeranian Medical University, Aleja Powstaców Wielkopolskich 72, 70-111 Szczecin, PolandCytogenetic Unit, Department of Pathology, Pomeranian Medical University, Aleja Powstaców Wielkopolskich 72, 70-111 Szczecin, PolandDepartment of Paediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology, Pomeranian Medical University, Aleja Powstaców Wielkopolskich 72, 70-111 Szczecin, PolandDepartment of Ophthalmology, Pomeranian Medical University, Aleja Powstaców Wielkopolskich 72, 70-111 Szczecin, PolandThe Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published. The aim of this study is not only to describe a new patient, but also, for the first time, to present the results of nonoperative management of divergent strabismus. Material and Methods. We present an amblyopic patient with 46,XX, r(15) karyotype: treated conservatively for exotropia of 60 prism diopters. The management consisted of refractive and prismatic correction, eye occlusion, and orthoptic exercises between the age of 15 months and 8 years. Results. The deviation angle of exotropia was decreased to 10 prism diopters, the visual acuity improved to 1.0 in both eyes (Snellen chart) and the fixation pattern was normal. The prisms enabled permanent symmetrical stimulation of the retina, which lead to a development of normal single binocular vision (Maddox test, filter test, and synoptophore tests). Conclusions. Parental karyotype was normal; the analysis of a three-generation pedigree has shown no genetic abnormalities or pregnancy losses so the child’s karyotype anomaly was classified as de novo that is a single occurrence of this type of chromosomal disorder in this family. Strabismus in ring chromosome 15 patients is a difficult condition to manage, although success may be achieved.http://dx.doi.org/10.1155/2014/285132 |
| spellingShingle | Lidia Puchalska-Niedbał Stanisław Zajączek Elżbieta Petriczko Urszula Kulik Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report Case Reports in Pediatrics |
| title | Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report |
| title_full | Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report |
| title_fullStr | Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report |
| title_full_unstemmed | Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report |
| title_short | Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report |
| title_sort | ophthalmic treatment and vision care of a patient with rare ring chromosome 15 a case report |
| url | http://dx.doi.org/10.1155/2014/285132 |
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