Maximilian Pfau
Overview
Explore the profile of Maximilian Pfau including associated specialties, affiliations and a list of published articles.
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Articles
116
Citations
1459
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Recent Articles
1.
Kaminska K, Cancellieri F, Quinodoz M, Moye A, Bauwens M, Lin S, et al.
Am J Hum Genet
. 2025 Mar;
PMID: 40081374
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci...
2.
Quinodoz M, Iglesias-Romero A, Cancellieri F, Kaminska K, Scholl H, Pfau M, et al.
Adv Exp Med Biol
. 2025 Feb;
1468:57-62.
PMID: 39930173
Stargardt disease (STGD1) is an inherited retinal dystrophy that follows an autosomal recessive inheritance in which photoreceptors degenerate, leading to progressive vision loss that starts from the central retina. The...
3.
Khateri P, Koottungal T, Wong D, Strauss R, Janeschitz-Kriegl L, Pfau M, et al.
Sci Rep
. 2025 Feb;
15(1):4739.
PMID: 39922894
Stargardt disease type 1 (STGD1) is a genetic disorder that leads to progressive vision loss, with no approved treatments currently available. The development of effective therapies faces the challenge of...
4.
Pfau K, Ansari G, Michels S, Dysli C, Liakopoulos S, Burghaus-Zhang J, et al.
Invest Ophthalmol Vis Sci
. 2025 Feb;
66(2):17.
PMID: 39913163
Purpose: To determine the prevalence and spatial pattern of rod and cone dysfunction in patients with pseudoxanthoma elasticum (PXE) and to correlate these with Bruch's membrane (BrM) calcification. PXE is...
5.
Mukherjee S, Arunachalam T, Duic C, Abraham M, Orndahl C, Menezes S, et al.
Transl Vis Sci Technol
. 2025 Feb;
14(2):7.
PMID: 39908134
Purpose: To examine relationships between retinal structure and visual function in geographic atrophy (GA) by analyzing spatial agreement between absolute scotomas and macular structure, focusing on (1) choroidal hypertransmission, a...
6.
Futterknecht S, Anders P, Mai J, Riedl S, Hall U, Gabrani C, et al.
Invest Ophthalmol Vis Sci
. 2025 Feb;
66(2):6.
PMID: 39903180
Purpose: The purpose of this study was to evaluate the feasibility and utility of optical coherence tomography (OCT)-based, targeted microperimetry grids in assessing focal lesions in intermediate age-related macular degeneration...
7.
Pfau K, Callizo J, Rossouw P, Gabrani C, Holz F, Charbel Issa P, et al.
Klin Monbl Augenheilkd
. 2025 Jan;
PMID: 39864434
No abstract available.
8.
Ehrenzeller C, Cancian G, Paris A, Grimaldi G, Pfau M, Menghini M
Retina
. 2025 Jan;
PMID: 39841918
Purpose: To assess if drusen volume can serve as structural clinical outcome marker in Malattia Leventinese (ML), and to evaluate whether cones or rods are more affected by its progression,...
9.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn S, Iglesias-Romero A, et al.
medRxiv
. 2025 Jan;
PMID: 39830270
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the...
10.
Karuntu J, Pfau M, Jolly J, Boon C
Acta Ophthalmol
. 2024 Nov;
PMID: 39581886
Purpose: Understanding test-retest variability (TRV) of mesopic microperimetry is critical for defining meaningful treatment effects in retinitis pigmentosa (RP) trials. This study uniquely evaluates intra- and intervisit TRV and coefficients...