Birgit Lorenz
Overview
Explore the profile of Birgit Lorenz including associated specialties, affiliations and a list of published articles.
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185
Citations
3279
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Recent Articles
1.
Zucchi D, Marinello D, Tani C, Fulvio G, Aguilera S, Benachi A, et al.
Orphanet J Rare Dis
. 2025 Mar;
20(1):112.
PMID: 40065363
Background: Rare and complex diseases can have a significant impact on family life, and managing the reproductive aspects of patients of childbearing age with rare diseases is often difficult and...
2.
Lorenz B
Med Genet
. 2025 Feb;
37(1):47-56.
PMID: 39943983
biallelic mutation-associated inherited retinal degeneration (IRD) is currently the only IRD for which gene therapy is approved. This narrative review provides a brief overview of the disease and an update...
3.
Woof W, de Guimaraes T, Al-Khuzaei S, Varela M, Sen S, Bagga P, et al.
Ophthalmol Sci
. 2025 Feb;
5(2):100652.
PMID: 39896422
Purpose: To quantify relevant fundus autofluorescence (FAF) features cross-sectionally and longitudinally in a large cohort of patients with inherited retinal diseases (IRDs). Design: Retrospective study of imaging data. Participants: Patients...
4.
Wenner Y, Schneider J, Drisser T, Yang Y, Demeter T, Fronius M, et al.
Graefes Arch Clin Exp Ophthalmol
. 2025 Jan;
PMID: 39757319
Purpose: Our study presents a virtual reality-based tangent screen test (VTS) to measure subjective ocular deviations including torsion in nine directions of gaze. The test was compared to the analogous...
5.
Pinedo-Diaz G, Lorenz B, Kunzel S, Thiele S, Ortega-Cisneros S, Corrochano E, et al.
Invest Ophthalmol Vis Sci
. 2025 Jan;
66(1):5.
PMID: 39745677
Purpose: To quantify outer retina structural changes and define novel biomarkers of inherited retinal degeneration associated with biallelic mutations in RPE65 (RPE65-IRD) in patients before and after subretinal gene augmentation...
6.
Igelman A, White E, Tayyib A, Everett L, Vincent A, Heon E, et al.
Br J Ophthalmol
. 2024 Jul;
109(2):286-292.
PMID: 39079892
Background/aaims: Congenital stationary night blindness (CSNB) is an inherited retinal disease that is often associated with high myopia and can be caused by pathological variants in multiple genes, most commonly...
7.
Pierce E, Ashimatey B, Jayasundera T, Hoyng C, Lam B, Lorenz B, et al.
Ophthalmol Sci
. 2024 Jun;
4(5):100483.
PMID: 38881603
Purpose: To define the clinical characteristics of centrosomal protein 290 ()-associated inherited retinal degeneration (IRD) and determine which assessments may provide reliable endpoints in future interventional trials. Design: Participants in...
8.
Woof W, de Guimaraes T, Al-Khuzaei S, Varela M, Sen S, Bagga P, et al.
medRxiv
. 2024 Apr;
PMID: 38585957
Purpose: To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients. Design: Retrospective study of imaging data (55-degree blue-FAF...
9.
Pfeil J, Barth T, Lagreze W, Lorenz B, Hufendiek K, Liegl R, et al.
Ophthalmol Retina
. 2023 Dec;
8(6):579-589.
PMID: 38104929
Purpose: To analyze changes in demographic parameters and retreatment patterns over a 10-year period in a clinical routine setting of infants with retinopathy of prematurity (ROP) requiring treatment documented in...
10.
Lorenz B, Kunzel S, Preising M, Scholz J, Chang P, Holz F, et al.
Ophthalmology
. 2023 Sep;
131(2):161-178.
PMID: 37704110
Purpose: To assess the impact of baseline data on psychophysical and morphological outcomes of subretinal voretigene neparvovec (VN) (Luxturna, Spark Therapeutics, Inc.) treatment. Design: Single-center, retrospective, longitudinal, consecutive case series....