RETINAL DYSTROPHY IN JEUNE SYNDROME: A MULTIMODAL IMAGING CHARACTERIZATION
| Autor: | Elisabetta Pilotto, Luisa Frizziero, Edoardo Midena, Evelyn Longhin |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
genetic structures Fundus (eye) 01 natural sciences 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Optical coherence tomography Ophthalmology medicine 0101 mathematics External limiting membrane Retinal pigment epithelium medicine.diagnostic_test business.industry 010102 general mathematics Dystrophy Staphyloma Retinal General Medicine medicine.disease eye diseases medicine.anatomical_structure chemistry 030221 ophthalmology & optometry sense organs business Exotropia |
| Popis: | Purpose To report multimodal imaging findings in a patient affected by Jeune syndrome-associated retinal dystrophy. Methods Observational case report. Results An 18-year-old girl affected by Jeune syndrome was referred to our low vision unit. She presented with bilateral high myopia, reduced visual acuity, exotropia, and nystagmus. Fundus examination detected posterior myopic staphyloma and diffuse retinal dystrophy confirmed using a full-field electroretinogram as a cone-rod dystrophy. Spectral domain optical coherence tomography detected a thick anomalous hyperreflective band located beneath an irregular and disrupted external limiting membrane, showing the primary involvement of the photoreceptors outer segment with relative sparing of the retinal pigment epithelium, as confirmed by fundus autofluorescence. Conclusion This is a case of Jeune syndrome with retinal abnormalities studied with fundus autofluorescence and optical coherence tomography. Retinal noninvasive multimodal imaging could provide significant insight in the retinal involvement of patients affected by Jeune syndrome and should have an essential role in the multidisciplinary diagnostic approach and follow-up. |
| Databáze: | OpenAIRE |
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