Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
| العنوان: | Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report |
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| المؤلفون: | Domenico Ceravolo, Gabriele Piccoli, Valentina Gatti, Giuseppe Giannaccare, Giovanna Carnovale Scalzo, D Bruzzichessi, Adriano Carnevali, Rodolfo Iuliano, Vincenzo Scorcia, Rossana Tallerico |
| المصدر: | BMC Ophthalmology BMC Ophthalmology, Vol 21, Iss 1, Pp 1-6 (2021) |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, genetic structures, Case Report, Retinal Pigment Epithelium, Hypotrichosis, Multimodal Imaging, CH3 mutation, Macular Degeneration, 030207 dermatology & venereal diseases, 03 medical and health sciences, Juvenile macular dystrophy, 0302 clinical medicine, Ophthalmology, Retinal Dystrophies, medicine, Humans, Fluorescein Angiography, Child, Retina, MfERG, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, General Medicine, RE1-994, Macular dystrophy, Macular degeneration, medicine.disease, Fluorescein angiography, Optical coherence tomography angiography, eye diseases, medicine.anatomical_structure, 030221 ophthalmology & optometry, Maculopathy, sense organs, business, Tomography, Optical Coherence |
| الوصف: | Background To report the first Italian case of hypotrichosis with juvenile macular dystrophy complicated by macular neovascularization diagnosed through multimodal imaging. Case presentation An 11-year-old boy was referred to our Institution for bilateral maculopathy of unknown origin. Multimodal imaging helps the diagnosis of Juvenile Macular Dystrophy with Hypotrichosis (HJMD). Fundus examination showed several alterations of the retinal pigment epithelium and circular pigmented area of chorioretinal atrophy. Structural spectral domain optical coherence tomography (OCT) showed some backscattering phenomenon with several alterations of retinal pigment epithelium and photoreceptor layer in both eyes. Moreover, OCT showed hyperreflective lesion beneath the neuroepithelium in left eye. OCT angiography (OCT-A) revealed a pathologic neovascular network in choriocapillaris plexus, probably the result of a fibrovascular membrane. Multifocal electroretinograms (MfERGs) showed functional alterations in 12.22° of the central retina. In order to confirm the suspicion of HJMD, the child and both parents underwent genetic testing. Both parents resulted to be heterozygous healthy carriers of a single variation. Conclusion Multimodal imaging, in particular OCT-A, is a useful aid, along to clinical findings and genetics, for the diagnosis of inherited retinal dystrophies. |
| تدمد: | 1471-2415 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::240fa3c3f294df52b1e73f413e3991feTest https://doi.org/10.1186/s12886-021-02037-8Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....240fa3c3f294df52b1e73f413e3991fe |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14712415 |
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