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The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.
Parmeggiani F, Weber M, Bremond-Gignac D, Daly A, Denee T, Lahaye M, Lotery A, Paudel N, Ritter M, Rodríguez de la Rúa E, Rotenstreich Y, Sankila EM, Stingl K, Van Denderen J, Pungor K. Parmeggiani F, et al. Among authors: stingl k. Eye (Lond). 2025 Jan 7. doi: 10.1038/s41433-024-03546-8. Online ahead of print. Eye (Lond). 2025. PMID: 39774292
XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa.
MacLaren RE, Duncan JL, Fischer MD, Lam BL, Meunier I, Pennesi ME, Sankila EK, Gow JA, Li J, Tsang SF; XOLARIS Study Group. MacLaren RE, et al. Ophthalmol Sci. 2024 Aug 13;5(1):100595. doi: 10.1016/j.xops.2024.100595. eCollection 2025 Jan-Feb. Ophthalmol Sci. 2024. PMID: 39493534 Free PMC article.
Adaptive optics retinal imaging in patients with usher syndrome.
Kempf M, Kohl S, Stingl K, Nasser F, Stingl K, Kortuem FC. Kempf M, et al. Among authors: stingl k. Front Ophthalmol (Lausanne). 2024 May 28;4:1349234. doi: 10.3389/fopht.2024.1349234. eCollection 2024. Front Ophthalmol (Lausanne). 2024. PMID: 38984112 Free PMC article.
An ontological foundation for ocular phenotypes and rare eye diseases.
Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H; ERN-EYE Ontology Study Group. Sergouniotis PI, et al. Orphanet J Rare Dis. 2019 Jan 9;14(1):8. doi: 10.1186/s13023-018-0980-6. Orphanet J Rare Dis. 2019. PMID: 30626441 Free PMC article.
Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.
Parekh B, Duncan JL, Samarakoon L, Melia M, Abalem MF, Andrews CA, Audo I, Ayala AR, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Huckfeldt RM, Lacy GD, Malbin B, Michaelides M, Musch DC, Peck-Dimit N, Stingl K, Weng CY, Zmejkoski AZ, Jayasundera KT; Foundation Fighting Blindness Clinical Consortium Investigator Group. Parekh B, et al. Among authors: stingl k. Invest Ophthalmol Vis Sci. 2024 Jun 3;65(6):5. doi: 10.1167/iovs.65.6.5. Invest Ophthalmol Vis Sci. 2024. PMID: 38833260 Free PMC article.
A case of AZOOR under immunomodulatory treatment.
Merle DA, Wolfram L, Nasyrov E, Reith M, Kowalski M, Kempf M, Strudel L, Doycheva D, Deuter C, Stingl K, Kühlewein L. Merle DA, et al. Among authors: stingl k. Retin Cases Brief Rep. 2024 Jul 23. doi: 10.1097/ICB.0000000000001643. Online ahead of print. Retin Cases Brief Rep. 2024. PMID: 39058998
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, Mc… See abstract for full author list ➔ Quinodoz M, et al. Among authors: stingl k. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study.
Birch DG, Cheng P, Maguire MG, Duncan JL, Ayala AR, Cheetham JK, Doucet NR, Durham TA, Fahim AT, Ferris FL 3rd, Huckfeldt RM, Melia M, Michaelides M, Pennesi ME, Sahel JA, Stingl K, Vincent A, Weng CY. Birch DG, et al. Among authors: stingl k. Ophthalmol Sci. 2024 Nov 8;5(2):100648. doi: 10.1016/j.xops.2024.100648. eCollection 2025 Mar-Apr. Ophthalmol Sci. 2024. PMID: 39811264 Free PMC article.
[Electrophysiology in ophthalmology].
Kühlewein L, Stingl K. Kühlewein L, et al. Among authors: stingl k. Ophthalmologie. 2024 Dec;121(12):1001-1010. doi: 10.1007/s00347-024-02134-1. Epub 2024 Nov 15. Ophthalmologie. 2024. PMID: 39545992 Review. German.
248 results