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Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study: A longitudinal study

• Authors : Jessica S. Karuntu; Xuan‐Thanh‐An Nguyen; Mays Talib ...

Subjects: Male; Adult; Adolescent

• Source: Karuntu, J S, Nguyen, X-T-A, Talib, M, van Schooneveld, M J, Wijnholds, J, van Genderen, M M, Schalij-Delfos, N E, Klaver, C C W, Meester-Smoor, M A, van den Born, L I, Hoyng, C B, Thiadens, A A H J,

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Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.

• Authors : Talib M; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.; van Schooneveld MJ

Subjects: Endpoint Determination* ; Patient Selection*; Retinal Dystrophies/Retinal Dystrophies/Retinal Dystrophies/*physiopathology

• Source: Acta ophthalmologica [Acta Ophthalmol] 2021 May; Vol. 99 (3), pp. e402-e414. Date of Electronic Publication: 2021 Feb 02.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Reduced metabolic function and structural alterations in inherited retinal dystrophies: investigating the effect of peripapillary vessel oxygen saturation and vascular diameter on the retinal nerve fibre layer thickness

• Authors : Rossiana I. Bojinova; Cengiz Türksever; Andreas Schötzau

Subjects: Adult; Male; Retinal Ganglion Cells

• Source: Acta Ophthalmologica. 95:252-261

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The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.

• Authors : Abu Diab A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; AlTalbishi A

Subjects: Mutation*; Carboxypeptidases/Carboxypeptidases/Carboxypeptidases/*genetics ; DNA/DNA/DNA/*genetics

• Source: Acta ophthalmologica [Acta Ophthalmol] 2019 Sep; Vol. 97 (6), pp. e877-e886. Date of Electronic Publication: 2019 Mar 29.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Choroidal structural analysis and vascularity index in retinal dystrophies.

• Authors : Wei X; Khoo Teck Puat Hospital, Singapore, Singapore.; Mishra C

Subjects: Visual Acuity*; Choroid/Choroid/Choroid/*pathology ; Retinal Dystrophies/Retinal Dystrophies/Retinal Dystrophies/*diagnosis

• Source: Acta ophthalmologica [Acta Ophthalmol] 2019 Feb; Vol. 97 (1), pp. e116-e121. Date of Electronic Publication: 2018 Sep 04.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A morphometric analysis of the retinal arterioles with adaptive optics imaging in RPE65-associated retinal dystrophy after treatment with voretigene neparvovec.

• Authors : Kortuem FC; Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.; Kempf M

Subjects: Arterioles* ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics

• Source: Acta ophthalmologica [Acta Ophthalmol] 2024 May; Vol. 102 (3), pp. e358-e366. Date of Electronic Publication: 2023 Sep 16.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies

• Authors : Talib, M. (Mays); Schooneveld, M.J. (Mary); Wijnholds, J. (Jan)

Subjects: gene therapy; retina; retinal dystrophy

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Artificial vision: the effectiveness of the OrCam in patients with advanced inherited retinal dystrophies

• Authors : Xuan‐Thanh‐An Nguyen; Jan Koopman; Maria M. van Genderen ...

Subjects: National Eye Institute (U.S.); Original Articles; low vision

• Source: Acta Ophthalmol

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Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.

• Authors : Hipp S; Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Zobor G

Subjects: Mutation*; Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics ; Retinal Dystrophies/Retinal Dystrophies/Retinal Dystrophies/*genetics

• Source: Acta ophthalmologica [Acta Ophthalmol] 2015 Jun; Vol. 93 (4), pp. e281-6. Date of Electronic Publication: 2014 Nov 27.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.

• Authors : Majander A; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Sankila EM

Subjects: Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/diagnosis ; Retinal Dystrophies*/Retinal Dystrophies*/Retinal Dystrophies*/genetics; Child, Preschool

• Source: Acta ophthalmologica [Acta Ophthalmol] 2023 Mar; Vol. 101 (2), pp. 215-221. Date of Electronic Publication: 2022 Sep 21.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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