Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients

<p>Optic disc drusen (ODD) is a slowly progressive, neurodegenerative optic neuropathy with incompletely described symptomatology. We aimed to investigate correlations between visual symptoms, optic nerve head anatomy, and visual function in a cohort of patients with ODD. Patients with optical...

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محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Marius B. Maartensson (22207133) (author)
مؤلفون آخرون: Steffen Hamann (848539) (author)
منشور في: 2025
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author Marius B. Maartensson (22207133)
author2 Steffen Hamann (848539)
author2_role author
author_facet Marius B. Maartensson (22207133)
Steffen Hamann (848539)
author_role author
dc.creator.none.fl_str_mv Marius B. Maartensson (22207133)
Steffen Hamann (848539)
dc.date.none.fl_str_mv 2025-09-08T12:40:04Z
dc.identifier.none.fl_str_mv 10.6084/m9.figshare.30075230.v1
dc.relation.none.fl_str_mv https://figshare.com/articles/dataset/Correlation_Between_Visual_Symptoms_and_Optic_Disc_Drusen_Phenotype_in_a_Cohort_of_Patients/30075230
dc.rights.none.fl_str_mv CC BY 4.0
info:eu-repo/semantics/openAccess
dc.subject.none.fl_str_mv Medicine
Genetics
Neuroscience
Physiology
Science Policy
Mental Health
Computational Biology
Biological Sciences not elsewhere classified
Optic disc drusen
optic nerve head drusen
symptom-function correlation
optical coherence tomography
visual function questionnaire-25
dc.title.none.fl_str_mv Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients
dc.type.none.fl_str_mv Dataset
info:eu-repo/semantics/publishedVersion
dataset
description <p>Optic disc drusen (ODD) is a slowly progressive, neurodegenerative optic neuropathy with incompletely described symptomatology. We aimed to investigate correlations between visual symptoms, optic nerve head anatomy, and visual function in a cohort of patients with ODD. Patients with optical coherence tomography (OCT)-verified ODD enrolled in a prior study (2017–2024) and consenting to recontact were invited to participate. Participants completed a National Eye Institute Visual Function Questionnaire-25 adapted for ODD (VFQ-25+), systematic OCT scan of the macula and optic nerve head, and a 30-degree automated perimetry. We included 118 patients (234 eyes). Comparing patients with bilateral superficial ODD (<i>n</i> = 46) to those with bilateral deep ODD (<i>n</i> = 26), there were no significant differences in symptoms such as transient visual obscurations (73.9% vs. 73.1%, <i>p</i> = .94) or nyctalopia (78.3% vs. 61.5%, <i>p</i> = .13), nor in VFQ-25+ scores (80.7 vs. 85.8, <i>p</i> = .06). Analyzing individual eyes, eyes with superficial ODD (<i>n</i> = 137) showed significantly lower macular ganglion cell layer and inner nuclear layer volumes and peripapillary retinal nerve fiber layer thickness (<i>p</i> < .0001) and a stronger correlation between perimetric mean deviation (MD) and ODD size (<i>R</i> = 0.75, <i>p</i> = 7.4e-26) compared to eyes with deep ODD (<i>n</i> = 97, <i>R</i> = 0.33, <i>p</i> = .0011). Although superficial ODD was associated with more pronounced declines in visual function, symptom reporting was consistent across ODD locations. Similar VFQ-25+ scores among different patient phenotypes suggest perimetric and retinal changes may not be readily perceived by patients.</p>
eu_rights_str_mv openAccess
id Manara_ab253ccc3b409cc4eccd93771cfe3d93
identifier_str_mv 10.6084/m9.figshare.30075230.v1
network_acronym_str Manara
network_name_str ManaraRepo
oai_identifier_str oai:figshare.com:article/30075230
publishDate 2025
repository.mail.fl_str_mv
repository.name.fl_str_mv
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rights_invalid_str_mv CC BY 4.0
spelling Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of PatientsMarius B. Maartensson (22207133)Steffen Hamann (848539)MedicineGeneticsNeurosciencePhysiologyScience PolicyMental HealthComputational BiologyBiological Sciences not elsewhere classifiedOptic disc drusenoptic nerve head drusensymptom-function correlationoptical coherence tomographyvisual function questionnaire-25<p>Optic disc drusen (ODD) is a slowly progressive, neurodegenerative optic neuropathy with incompletely described symptomatology. We aimed to investigate correlations between visual symptoms, optic nerve head anatomy, and visual function in a cohort of patients with ODD. Patients with optical coherence tomography (OCT)-verified ODD enrolled in a prior study (2017–2024) and consenting to recontact were invited to participate. Participants completed a National Eye Institute Visual Function Questionnaire-25 adapted for ODD (VFQ-25+), systematic OCT scan of the macula and optic nerve head, and a 30-degree automated perimetry. We included 118 patients (234 eyes). Comparing patients with bilateral superficial ODD (<i>n</i> = 46) to those with bilateral deep ODD (<i>n</i> = 26), there were no significant differences in symptoms such as transient visual obscurations (73.9% vs. 73.1%, <i>p</i> = .94) or nyctalopia (78.3% vs. 61.5%, <i>p</i> = .13), nor in VFQ-25+ scores (80.7 vs. 85.8, <i>p</i> = .06). Analyzing individual eyes, eyes with superficial ODD (<i>n</i> = 137) showed significantly lower macular ganglion cell layer and inner nuclear layer volumes and peripapillary retinal nerve fiber layer thickness (<i>p</i> < .0001) and a stronger correlation between perimetric mean deviation (MD) and ODD size (<i>R</i> = 0.75, <i>p</i> = 7.4e-26) compared to eyes with deep ODD (<i>n</i> = 97, <i>R</i> = 0.33, <i>p</i> = .0011). Although superficial ODD was associated with more pronounced declines in visual function, symptom reporting was consistent across ODD locations. Similar VFQ-25+ scores among different patient phenotypes suggest perimetric and retinal changes may not be readily perceived by patients.</p>2025-09-08T12:40:04ZDatasetinfo:eu-repo/semantics/publishedVersiondataset10.6084/m9.figshare.30075230.v1https://figshare.com/articles/dataset/Correlation_Between_Visual_Symptoms_and_Optic_Disc_Drusen_Phenotype_in_a_Cohort_of_Patients/30075230CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/300752302025-09-08T12:40:04Z
spellingShingle Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients
Marius B. Maartensson (22207133)
Medicine
Genetics
Neuroscience
Physiology
Science Policy
Mental Health
Computational Biology
Biological Sciences not elsewhere classified
Optic disc drusen
optic nerve head drusen
symptom-function correlation
optical coherence tomography
visual function questionnaire-25
status_str publishedVersion
title Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients
title_full Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients
title_fullStr Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients
title_full_unstemmed Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients
title_short Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients
title_sort Correlation Between Visual Symptoms and Optic Disc Drusen Phenotype in a Cohort of Patients
topic Medicine
Genetics
Neuroscience
Physiology
Science Policy
Mental Health
Computational Biology
Biological Sciences not elsewhere classified
Optic disc drusen
optic nerve head drusen
symptom-function correlation
optical coherence tomography
visual function questionnaire-25