Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report
In this case report, we aim to illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that closely resembles incontinentia pigmenti (IP) and the role of genetic testing that is of no cost to the patient in providing the correct diagnosis. We present a case of an 11-year-old female-...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-11-01
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| Series: | Case Reports in Ophthalmology |
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| Online Access: | https://beta.karger.com/Article/FullText/533632 |
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| author | Reem Karmouta Irena Tsui Monica Khitri |
| author_facet | Reem Karmouta Irena Tsui Monica Khitri |
| author_sort | Reem Karmouta |
| collection | DOAJ |
| description | In this case report, we aim to illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that closely resembles incontinentia pigmenti (IP) and the role of genetic testing that is of no cost to the patient in providing the correct diagnosis. We present a case of an 11-year-old female-to-male transgender patient with a history of hypodontia and skin hypopigmentation who was incidentally found to have a retinal lesion on ultra-widefield fundus imaging during routine screening. Ultra-widefield fluorescein angiography confirmed bilateral peripheral ischemic retinopathy that was successfully treated with laser. The patient was presumed to have IP; however, genetic testing was negative. Due to cost, further genetic testing was declined by the family, and the patient had no further ocular complaints. At age 16, genetic testing became available to the patient, and the patient was found to have FEVR with LRP5 mutation. The patient began screening for comorbidities associated with LRP5 mutation. This case highlights how the ophthalmologic findings of FEVR can present identically to those of IP, and genetic testing is an invaluable tool in distinguishing between these two pathologies. Correct diagnosis of FEVR is vital in assessing other comorbidities of the disease, including osteoporosis. Furthermore, increased use of ultra-widefield fundus imaging in routine eye screening may be of great benefit for community screening of retinal disease, and ultra-widefield fluorescein angiography is of significant use in the diagnosis of FEVR. |
| first_indexed | 2024-03-08T21:21:13Z |
| format | Article |
| id | doaj.art-570be274180a4fe69ebf64391863a990 |
| institution | Directory Open Access Journal |
| issn | 1663-2699 |
| language | English |
| last_indexed | 2024-03-08T21:21:13Z |
| publishDate | 2023-11-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Ophthalmology |
| spelling | doaj.art-570be274180a4fe69ebf64391863a9902023-12-21T10:09:26ZengKarger PublishersCase Reports in Ophthalmology1663-26992023-11-0114164064610.1159/000533632533632Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case ReportReem Karmouta0Irena Tsui1Monica Khitri2David Geffen School of Medicine, Stein Eye Institute, Doheny Eye Institute, Department of Ophthalmology, University of California Los Angeles, Los Angeles, CA, USADavid Geffen School of Medicine, Stein Eye Institute, Doheny Eye Institute, Department of Ophthalmology, University of California Los Angeles, Los Angeles, CA, USADavid Geffen School of Medicine, Stein Eye Institute, Doheny Eye Institute, Department of Ophthalmology, University of California Los Angeles, Los Angeles, CA, USAIn this case report, we aim to illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that closely resembles incontinentia pigmenti (IP) and the role of genetic testing that is of no cost to the patient in providing the correct diagnosis. We present a case of an 11-year-old female-to-male transgender patient with a history of hypodontia and skin hypopigmentation who was incidentally found to have a retinal lesion on ultra-widefield fundus imaging during routine screening. Ultra-widefield fluorescein angiography confirmed bilateral peripheral ischemic retinopathy that was successfully treated with laser. The patient was presumed to have IP; however, genetic testing was negative. Due to cost, further genetic testing was declined by the family, and the patient had no further ocular complaints. At age 16, genetic testing became available to the patient, and the patient was found to have FEVR with LRP5 mutation. The patient began screening for comorbidities associated with LRP5 mutation. This case highlights how the ophthalmologic findings of FEVR can present identically to those of IP, and genetic testing is an invaluable tool in distinguishing between these two pathologies. Correct diagnosis of FEVR is vital in assessing other comorbidities of the disease, including osteoporosis. Furthermore, increased use of ultra-widefield fundus imaging in routine eye screening may be of great benefit for community screening of retinal disease, and ultra-widefield fluorescein angiography is of significant use in the diagnosis of FEVR.https://beta.karger.com/Article/FullText/533632familial exudative vitreoretinopathyincontinentia pigmentitransgender healthcase report |
| spellingShingle | Reem Karmouta Irena Tsui Monica Khitri Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report Case Reports in Ophthalmology familial exudative vitreoretinopathy incontinentia pigmenti transgender health case report |
| title | Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report |
| title_full | Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report |
| title_fullStr | Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report |
| title_full_unstemmed | Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report |
| title_short | Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report |
| title_sort | familial exudative vitreoretinopathy initially diagnosed as incontinentia pigmenti in an asymptomatic teenager a case report |
| topic | familial exudative vitreoretinopathy incontinentia pigmenti transgender health case report |
| url | https://beta.karger.com/Article/FullText/533632 |
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