28.11.2019 |
Marta Del Pozo-Valeroa, Inmaculada Martin-Meridaa,c, Belen Jimenez-Rolandob, Ana Artechea, Almudena Avila-Fernandeza,c, Fiona Blanco-Kellya,c, Rosa Riveiro-Alvareza, Caroline Van Cauwenberghd,e, Elfride De Baered, Carlo Rivoltaf,g, Blanca Garcia-Sandovalb, Marta Cortona,c, Carmen Ayuso
בשל "הגנת זכויות יוצרים", מובא להלן קישור למאמר בלבד. לקריאתו בטקסט מלא, אנא פנה לספרייה הרפואית הזמינה לך.
To describe the genetic and phenotypic characteristics of a cohort of patients with PROM1 variants.
We screened a cohort of 2216 families with inherited retinal dystrophies using classical molecular techniques and next-generation sequencing approaches.
The clinical histories of 25 patients were reviewed to determine age of onset of symptoms and the results of ophthalmoscopy, best-corrected visual acuity, full-field electroretinography, and visual field studies.
Fundus autofluorescence and spectral-domain optical coherence tomography were further assessed in 7 patients.
We report the largest cohort of patients with PROM1 variants, describing in detail the phenotype in 25 of them. Interestingly, within the variability of phenotypes related to this gene, macular involvement is a common feature in all patients.
American Journal of Ophthalmology, Volume 207, p204-214, November 2019