Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report
<i>Background:</i> Noonan syndrome (NS) represents a fairly common genetic disorder with a highly variable phenotype. Its features include inherited heart defects, characteristic facial features, short stature, and mild retardation of motor skills. <i>Case presentation:</i> A...
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| Format: | Article |
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MDPI AG
2023-09-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/10/10/1643 |
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| author | Marta Świerczyńska Agnieszka Tronina Anna Lorenc Erita Filipek |
| author_facet | Marta Świerczyńska Agnieszka Tronina Anna Lorenc Erita Filipek |
| author_sort | Marta Świerczyńska |
| collection | DOAJ |
| description | <i>Background:</i> Noonan syndrome (NS) represents a fairly common genetic disorder with a highly variable phenotype. Its features include inherited heart defects, characteristic facial features, short stature, and mild retardation of motor skills. <i>Case presentation:</i> A 16-year-old Caucasian girl with NS reported visual deterioration, photophobia, and pain in the right eye (RE). The initial best-corrected visual acuity (BCVA) was 0.3 in the RE. An examination demonstrated conjunctival and ciliary body hyperemia, keratic precipitates, and flare in the anterior chamber. In addition, post-hemorrhagic floaters, tortuous vessels, and an epiretinal membrane in the RE were present. Diagnosis of unilateral anterior uveitis was made, and this resolved after the use of topical steroids and cycloplegic drops. Due to the presence of retinal telangiectasias and extraocular exudates (consistent with Coats’ disease (CD) stage 2A) in the RE, laser therapy was performed. The patient remains under constant follow-up, and after one year, the BCVA in the RE was 0.7. <i>Conclusions:</i> Here, we report the clinical characteristics, genetic findings, and retinal imaging results of a patient with NS. To our knowledge, this is, to date, the first report of an association of NS with a <i>PTPN11</i> mutation with anterior uveitis and CD. |
| first_indexed | 2024-03-10T21:20:55Z |
| format | Article |
| id | doaj.art-aee2a4812238491b8e423bfe54c74f3e |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-10T21:20:55Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-aee2a4812238491b8e423bfe54c74f3e2023-11-19T16:05:00ZengMDPI AGChildren2227-90672023-09-011010164310.3390/children10101643Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case ReportMarta Świerczyńska0Agnieszka Tronina1Anna Lorenc2Erita Filipek3Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, PolandDepartment of Pediatric Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, PolandDepartment of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, PolandDepartment of Pediatric Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland<i>Background:</i> Noonan syndrome (NS) represents a fairly common genetic disorder with a highly variable phenotype. Its features include inherited heart defects, characteristic facial features, short stature, and mild retardation of motor skills. <i>Case presentation:</i> A 16-year-old Caucasian girl with NS reported visual deterioration, photophobia, and pain in the right eye (RE). The initial best-corrected visual acuity (BCVA) was 0.3 in the RE. An examination demonstrated conjunctival and ciliary body hyperemia, keratic precipitates, and flare in the anterior chamber. In addition, post-hemorrhagic floaters, tortuous vessels, and an epiretinal membrane in the RE were present. Diagnosis of unilateral anterior uveitis was made, and this resolved after the use of topical steroids and cycloplegic drops. Due to the presence of retinal telangiectasias and extraocular exudates (consistent with Coats’ disease (CD) stage 2A) in the RE, laser therapy was performed. The patient remains under constant follow-up, and after one year, the BCVA in the RE was 0.7. <i>Conclusions:</i> Here, we report the clinical characteristics, genetic findings, and retinal imaging results of a patient with NS. To our knowledge, this is, to date, the first report of an association of NS with a <i>PTPN11</i> mutation with anterior uveitis and CD.https://www.mdpi.com/2227-9067/10/10/1643Noonan syndrome<i>PTPN11</i> mutationanterior uveitisANACoats diseaseretinopathy |
| spellingShingle | Marta Świerczyńska Agnieszka Tronina Anna Lorenc Erita Filipek Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report Children Noonan syndrome <i>PTPN11</i> mutation anterior uveitis ANA Coats disease retinopathy |
| title | Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report |
| title_full | Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report |
| title_fullStr | Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report |
| title_full_unstemmed | Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report |
| title_short | Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report |
| title_sort | anterior uveitis and coats disease in a 16 year old girl with noonan syndrome a case report |
| topic | Noonan syndrome <i>PTPN11</i> mutation anterior uveitis ANA Coats disease retinopathy |
| url | https://www.mdpi.com/2227-9067/10/10/1643 |
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