Birgit Lorenz
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View article: Chorioretinal atrophy after Voretigene Neparvovec-therapy in RPE65-mutation-associated IRD: Longitudinal characterization in multimodal imaging.
Chorioretinal atrophy after Voretigene Neparvovec-therapy in RPE65-mutation-associated IRD: Longitudinal characterization in multimodal imaging. Open
Introduction: The detection of chorioretinal atrophy (CRA) following Voretigene Neparvovec(VN)-therapy for RPE65-IRD highlights the need for long-term monitoring to better understand the safety and efficacy of this gene augmentation treatm…
View article: Advocates, Academics, Survivors and Clinicians to END Intimate Partner Violence (ASCEND-IPV) initiative: a prospective observational case–control study protocol to identify plasma biomarkers of intimate partner violence (IPV)-caused brain injury (BI)
Advocates, Academics, Survivors and Clinicians to END Intimate Partner Violence (ASCEND-IPV) initiative: a prospective observational case–control study protocol to identify plasma biomarkers of intimate partner violence (IPV)-caused brain injury (BI) Open
Introduction Although as many as 92% of survivors of physical intimate partner violence (IPV) report impacts to the head and/or non-fatal strangulation (NFS) that raise clinical suspicion of brain injury (BI), there are no evidence-based m…
View article: The endoplasmic reticulum autophagy receptor TEX264 drives epidermal differentiation and is dysregulated in Darier disease
The endoplasmic reticulum autophagy receptor TEX264 drives epidermal differentiation and is dysregulated in Darier disease Open
Differentiating keratinocytes break down their organelles and nuclei to become the compacted cornified layers of the epidermal barrier in a poorly understood catabolic process. Live confocal imaging of stratified human organotypic epidermi…
View article: Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations Open
Purpose To quantify spectral-domain optical coherence tomography (SD-OCT) images cross-sectionally and longitudinally in a large cohort of molecularly characterized patients with inherited retinal disease (IRDs) from the UK. Design Retrosp…
View article: Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene
Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene Open
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing …
View article: Multicenter Retrospective Study of <i>Spiroplasma ixodetis</i> Infantile Cataract in 8 Countries in Europe
Multicenter Retrospective Study of <i>Spiroplasma ixodetis</i> Infantile Cataract in 8 Countries in Europe Open
Spiroplasma ixodetis has been reported to cause the rare combination of cataract and uveitis in infants. Through a retrospective analysis of available literature and additional unpublished cases, we identified 28 eyes from 18 infants from …
View article: Rare pediatric retinal diseases: A review
Rare pediatric retinal diseases: A review Open
Rare pediatric retinal disorders present significant challenges in diagnosis and management due to their limited prevalence and diverse clinical manifestations. This paper provides a comprehensive review of select rare retinal disorders af…
View article: Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey
Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey Open
View article: Virtual reality-based Harms tangent screen test for strabismus measurement
Virtual reality-based Harms tangent screen test for strabismus measurement Open
View article: The Prevalence of Physical Intimate Partner Violence During Pregnancy and the Postpartum Period: A Systematic Review With Implications for Probable Violence-Caused Brain Injury Among Child Bearers
The Prevalence of Physical Intimate Partner Violence During Pregnancy and the Postpartum Period: A Systematic Review With Implications for Probable Violence-Caused Brain Injury Among Child Bearers Open
Intimate partner violence (IPV) persists as a cause of short-term, long-term, and chronic health consequences. The elevated risk of IPV during pregnancy and the postpartum period (P-IPV) is commonly attributed to increased demands for chil…
View article: Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
View article: P Score: A Reference Image-Based Clinical Grading Scale for Vascular Change in Retinopathy of Prematurity
P Score: A Reference Image-Based Clinical Grading Scale for Vascular Change in Retinopathy of Prematurity Open
View article: Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom Open
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 …
View article: Twelve-month Natural History Study of Centrosomal Protein 290 (CEP290)-associated Inherited Retinal Degeneration
Twelve-month Natural History Study of Centrosomal Protein 290 (CEP290)-associated Inherited Retinal Degeneration Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
View article: Measurement of the Isolated Nuclear Two-Photon Decay in $^{72}\mathrm{Ge}$
Measurement of the Isolated Nuclear Two-Photon Decay in $^{72}\mathrm{Ge}$ Open
The nuclear two-photon or double-gamma ($2γ$) decay is a second-order electromagnetic process whereby a nucleus in an excited state emits two gamma rays simultaneously. To be able to directly measure the $2γ$ decay rate in the low-energy r…
View article: Treated Cases of Retinopathy of Prematurity in Germany
Treated Cases of Retinopathy of Prematurity in Germany Open
View article: Comparability of input parameters in the German Retina.net ROP registry and the EU‐ROP registry – An exemplary comparison between 2011 and 2021
Comparability of input parameters in the German Retina.net ROP registry and the EU‐ROP registry – An exemplary comparison between 2011 and 2021 Open
Purpose The German Retina.net ROP registry and its Europe‐wide successor, the EU‐ROP registry, collect data from patients treated for ROP. This analysis compares input parameters of these two registries to establish a procedure for joint a…
View article: Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation–Associated Inherited Retinal Degeneration in a Clinical Setting
Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation–Associated Inherited Retinal Degeneration in a Clinical Setting Open
View article: Diagnostik und Management von Patient*innen mit erblichen Netzhautdegenerationen in Deutschland
Diagnostik und Management von Patient*innen mit erblichen Netzhautdegenerationen in Deutschland Open
Zusammenfassung Hintergrund Aufkommende Therapien führen zu wachsendem Interesse an hereditären Netzhauterkrankungen (engl. „inherited retinal diseases“ [IRDs]), einer heterogenen Gruppe seltener Erkrankungen, die potenziell zur Erblindung…
View article: Storage, accumulation and deceleration of secondary beams for nuclear astrophysics
Storage, accumulation and deceleration of secondary beams for nuclear astrophysics Open
View article: Combining CNNs and Markov-like Models for Facial Landmark Detection with Spatial Consistency Estimates
Combining CNNs and Markov-like Models for Facial Landmark Detection with Spatial Consistency Estimates Open
The accurate localization of facial landmarks is essential for several tasks, including face recognition, head pose estimation, facial region extraction, and emotion detection. Although the number of required landmarks is task-specific, mo…
View article: 10 Jahre Screening auf Frühgeborenenretinopathie (2009–2019)
10 Jahre Screening auf Frühgeborenenretinopathie (2009–2019) Open
Zusammenfassung Hintergrund Die Frühgeborenenretinopathie („retinopathy of prematurity“ [ROP]) zählt in Deutschland und weltweit zu den häufigsten Erblindungsursachen im Kindesalter; ein adäquates Screening ist essenziell. Der telemedizini…
View article: Supplementary Material for: Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by the European Vision Institute Clinical Research Network - EVICR.net
Supplementary Material for: Current management of Inherited Retinal Degenerations (IRD) patients in Europe. Results of a 2 years follow-up multinational survey by the European Vision Institute Clinical Research Network - EVICR.net Open
Introduction: An increasing number of gene-specific therapies are being developed for IRDs. Identification of well characterized patients is an emerging need. We conducted the second multinational survey among the EVICR.net and ERN-EYE mem…
View article: Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey
Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey Open
Introduction: The aim of this study was to evaluate the current management of RPE65 biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of voretigene neparvovec (VN, LuxturnaTM) in …
View article: Supplementary Material for: Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey
Supplementary Material for: Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey Open
Introduction: To evaluate the current management of RPE65-biallelic mutation-associated inherited retinal degeneration (RPE65-IRD) in Europe since market authorization of Voretigene Neparvovec (VN, LuxturnaTM) in 2018. By July 2022, over 2…
View article: Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net Open
Introduction: An increasing number of gene-specific therapies are being developed for inherited retinal degenerations (IRDs). Identification of well-characterized patients is an emerging need. We conducted the second multinational survey a…
View article: The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacy
The landscape of submicroscopic structural variants at the <i>OPN1LW/OPN1MW</i> gene cluster on Xq28 underlying blue cone monochromacy Open
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor …
View article: Retinopathy of prematurity classification updates: possible implications for treatment
Retinopathy of prematurity classification updates: possible implications for treatment Open
View article: Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia
Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia Open
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PD…
View article: Artificial Intelligence for Retinopathy of Prematurity
Artificial Intelligence for Retinopathy of Prematurity Open