Electronic Resource
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies
| العنوان: | Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies |
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| المؤلفون: | Talib, Mays, van Schooneveld, Mary J, Wijnholds, Jan, van Genderen, Maria M, Schalij-Delfos, Nicoline E, Talsma, Herman E, Florijn, Ralph J, Ten Brink, Jacoline B, Cremers, Frans P M, Thiadens, Alberta A H J, van den Born, L Ingeborgh, Hoyng, Carel B, Meester-Smoor, Magda A, Bergen, Arthur A, Boon, Camiel J F |
| المصدر: | Acta Ophthalmologica vol.99 (2021) p.e402-e414 [ISSN 1755-375X] |
| بيانات النشر: | 2021 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | PURPOSE: To investigate the retinal structure and function in patients with CRB1-associated retinal dystrophies (RD) and to explore potential clinical endpoints.METHODS: In this prospective cross-sectional study, 22 patients with genetically confirmed CRB1-RD (aged 6-74 years), and who had a decimal best-corrected visual acuity (BCVA) ≥ 0.05 at the last visit, were studied clinically with ETDRS BCVA, corneal topography, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, Goldmann visual field (VF), microperimetry, full-field electroretinography (ERG) and full-field stimulus testing (FST). Ten patients were from a genetic isolate (GI).RESULTS: Patients had retinitis pigmentosa (n = 19; GI and non-GI), cone-rod dystrophy (n = 2; GI) or macular dystrophy (n = 1; non-GI). Median age at first symptom onset was 3 years (range 0.8-49). Median decimal BCVA in the better and worse-seeing eye was 0.18 (range 0.05-0.83) and 0.08 (range light perception-0.72), respectively. Spectral-domain optical coherence tomography (SD-OCT) showed cystoid maculopathy in 8 subjects; inner retinal thickening (n = 20), a well-preserved (para)foveal outer retina (n = 7) or severe (para)foveal outer retinal atrophy (n = 14). All retinal layers were discernible in 13/21 patients (62%), with mild to moderate laminar disorganization in the others. Nanophthalmos was observed in 8 patients (36%). Full-field stimulus testing (FST) provided a subjective outcome measure for retinal sensitivity in eyes with (nearly) extinguished ERG amplitudes.CONCLUSIONS: Despite the generally severe course of CRB1-RDs, symptom onset and central visual function are variable, even at advanced ages. Phenotypes may vary within the same family. Imaging and functional studies in a prospective longitudinal setting should clarify which endpoints may be most appropriate in a clinical trial. |
| مصطلحات الفهرس: | Artikel, Article |
| URL: | |
| الاتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess |
| ملاحظة: | DOI: 10.1111/aos.14597 Acta Ophthalmologica vol.99 (2021) p.e402-e414 [ISSN 1755-375X] English |
| Other Numbers: | NLKNA oai:pure.knaw.nl:publications/eedb90a6-6b60-4153-8757-7d4632056290 https://pure.knaw.nl/portal/en/publications/eedb90a6-6b60-4153-8757-7d4632056290 1236201126 |
| المصدر المساهم: | KON NED AKADEMIE VAN WETENSCHAPPEN From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1236201126 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |