Academic Journal
Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome.
| العنوان: | Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome. |
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| المؤلفون: | Khatib, Tasneem Z, Safi, Antoine, Nixon, Thomas Ralph William, Georgoulas, Stylianos, Montesano, Giovanni, Martin, Howard, Richards, Allan J, McNinch, Annie, Poulson, Arabella V, Alexander, Philip, Snead, Martin P |
| بيانات النشر: | Elsevier BV Department of Clinical Neurosciences //doi.org/10.1016/j.oret.2024.05.008 Ophthalmol Retina |
| سنة النشر: | 2024 |
| المجموعة: | Apollo - University of Cambridge Repository |
| مصطلحات موضوعية: | PHOMS, Peripapillary hyperreflective ovoid mass-like structures, Stickler syndrome, Humans, Female, Male, Connective Tissue Diseases, Adolescent, Adult, Young Adult, Middle Aged, Tomography, Optical Coherence, Optic Disk, Hearing Loss, Sensorineural, Arthritis, Joint Instability, Retinal Detachment, Fluorescein Angiography, Collagen Type XI, Pilot Projects, Fundus Oculi, Collagen Type II, Retrospective Studies, Mutation |
| الوصف: | PURPOSE: To report a previously undescribed finding of peripapillary hyperreflective ovoid mass-like structures (PHOMS) in Stickler syndrome. DESIGN: Noncomparative case series. SUBJECTS: Twenty-two eyes with anomalous optic disc from 11 Stickler syndrome patients were identified and imaged. METHODS: Peripapillary hyperreflective ovoid mass-like structures were graded using enhanced-depth imaging OCT (EDI-OCT) according to the consensus recommendations of the Optic Disc Drusen Studies Consortium. All EDI-OCT scans were obtained using the Heidelberg Spectralis (Heidelberg Engineering) with a dense horizontal raster (15 × 10°, 97 sections) centered on the optic nerve head and graded by 2 independent assessors. In case of disagreement, the image was graded by a third assessor. The presence of any coexisting optic disc drusen was also assessed using EDI-OCT and autofluorescence. MAIN OUTCOME MEASURES: The presence of PHOMS, clinical characteristics and genetic mutations. RESULTS: A pilot sample of 22 eyes with phenotypic optic disc abnormalities from 11 Stickler syndrome patients were identified and imaged. Eight patients were female and 3 were male. The mean age was 31 years (13-58 years). Peripapillary hyperreflective ovoid mass-like structures were present in 91% (n = 20) of imaged eyes. Seventy percent (n = 14) were type 1 Stickler syndrome and 30% (n = 6) were type 2 Stickler syndrome. All eyes were myopic and the degree of myopia did not seem to affect whether or not PHOMS was present in this cohort. One eye with PHOMS had retinal detachment, and 77.3% (n = 17) of eyes had undergone 360o prophylactic retinopexy. Thirty-two percent (n = 7) of eyes with PHOMS were present in patients with coexisting hearing loss and 22.7% (n = 5) had orofacial manifestation of Stickler syndrome in the form of a cleft palate. Seventy-seven percent (n = 15) of eyes with PHOMS were present in patients who reported joint laxity or symptoms of arthritis. No coexisting optic disc drusen were identified and raised intracranial pressure ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | https://www.repository.cam.ac.uk/handle/1810/368199; https://doi.org/10.17863/CAM.108512 |
| DOI: | 10.17863/CAM.108512 |
| الاتاحة: | https://www.repository.cam.ac.uk/handle/1810/368199 https://doi.org/10.17863/CAM.108512 |
| Rights: | Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.38110DFC |
| قاعدة البيانات: | BASE |
| DOI: | 10.17863/CAM.108512 |
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