Deep phenotyping of PROM1-associated retinal degeneration
| العنوان: | Deep phenotyping of PROM1-associated retinal degeneration |
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| المؤلفون: | Gernot Schließleder, Angelos Kalitzeos, Melissa Kasilian, Navjit Singh, Ziyuan Wang, Zhihong Hu, Manuel Großpötzl, SriniVas Sadda, Andreas Wedrich, Michel Michaelides, Rupert W Strauss |
| المصدر: | British Journal of Ophthalmology. :bjo-2022 |
| بيانات النشر: | BMJ, 2023. |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Cellular and Molecular Neuroscience, Ophthalmology, Sensory Systems |
| الوصف: | Background/aimsThe purpose of this study was to investigate retinal structure in detail of subjects with autosomal-dominant (AD) and autosomal-recessive (AR)PROM1-associated retinal degeneration (PROM1-RD), study design: institutional, cross-sectional study.MethodsFour eyes from four subjects (three with AD and one with AR)PROM1-RD were investigated by ophthalmic examination including best-corrected visual acuity (BCVA) and multimodal retinal imaging: fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) and adaptive optics scanning light ophthalmoscopy. Quantitative assessment of atrophic lesions determined by FAF, thickness of individual retinal layers and cone photoreceptor quantification was performed.ResultsBCVA ranged from 20/16 to 20/200. Initial pathological changes included the presence of hyperautofluorescent spots on FAF imaging, while later stages demonstrated discrete areas of atrophy. In all patients, thinning of the outer retinal layers on SD-OCT with varying degrees of atrophy could be detected depending on disease-causing variants and age. Cone density was quantified both in central and/or at different eccentricities from the fovea. Longitudinal assessments were possible in two patients.ConclusionsPROM1-RD comprises a wide range of clinical phenotypes. Depending on the stage of disease, the cone mosaic inPROM1-RD is relatively preserved and can potentially be targeted by cone-directed interventions. |
| تدمد: | 1468-2079 0007-1161 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::067c7500074ff607fdd954f5287166a3Test https://doi.org/10.1136/bjo-2022-322036Test |
| رقم الانضمام: | edsair.doi...........067c7500074ff607fdd954f5287166a3 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14682079 00071161 |
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