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...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | |
| منشور في: |
2025
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| الموضوعات: | |
| الوسوم: |
إضافة وسم
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| _version_ | 1852016876041797632 |
|---|---|
| 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 | |
| repository_id_str | |
| 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 |