ABSTRACT
PURPOSE: To investigate the prevalence and location of optic nerve head drusen and their potential association with other PXE-related ophthalmic abnormalities. MATERIALS AND METHODS: Thirty-eight of the 155 patients (57 male and 98 female aged 49±17 years) included in this retrospective study had optic nerve head drusen. All of the patients underwent a comprehensive ophthalmic examination, including color images using red-free, blue and red filters, autofluorescence imaging and late-phase ICG frames. Comparative analysis of both groups (optic nerve head drusen or not) was conducted using R statistical software. RESULTS: The prevalence of optic nerve head drusen in our cohort was 24.5%. In this study, no evidence of a significant link between optic nerve head drusen and other fundus abnormalities was detected. They were more commonly located in the nasal sector than in the temporal sector of the optic disc (P<0.001). They were more frequently situated superonasally than inferonasally (P<0.004), superotemporally (P<0.001) or inferotemporally (P<0.03). No central visual field defect was observed in OND+ patients who were unaffected by macular disorders. DISCUSSION: We hypothesized this predominantly nasal primary location may result from greater sensitivity in the nasal optic nerve fibers which follow a much more angular path once they arrive in the scleral canal, accounting for accumulation of axoplasmic debris. CONCLUSION: In PXE, optic nerve head drusen are mostly located in the superonasal quadrant, causing progressive optic nerve invasion but probably no central visual field defects.
Subject(s)
Optic Disk Drusen/complications , Optic Disk Drusen/diagnosis , Optic Nerve/diagnostic imaging , Pseudoxanthoma Elasticum/complications , Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Fundus Oculi , Genotype , Humans , Male , Middle Aged , Optic Disk/diagnostic imaging , Optic Disk Drusen/genetics , Optic Disk Drusen/pathology , Optic Nerve/pathology , Pseudoxanthoma Elasticum/diagnosis , Pseudoxanthoma Elasticum/genetics , Pseudoxanthoma Elasticum/pathology , Retrospective Studies , Tomography, Optical Coherence , Visual Acuity , Visual Field Tests , Young AdultSubject(s)
Arteriovenous Malformations/diagnosis , Retinal Artery/abnormalities , Adolescent , Arteriovenous Malformations/pathology , Eye Abnormalities/diagnosis , Eye Abnormalities/pathology , Female , Fundus Oculi , Humans , Male , Middle Aged , Retinal Artery/diagnostic imaging , Retinal Artery/pathologyABSTRACT
PURPOSE: To study the prevalence of fundus anomalies among patients with pseudoxanthoma elasticum as a function of their age. MATERIAL AND METHODS: All patients have had a complete ophthalmologic examination in multidisciplinary consultation for PXE in a national reference center. RESULTS: Hundred and fifty-eight patients (60 men and 98 women aged from 10 to 90 years old, mean 45±17 years) were included in a cross-sectional retrospective study. All fundus pictures were retrospectively reviewed over 9 years. Peau d'orange (55.6 %), was the first fundus feature observed in younger patients and disappeared with age. Angioid streaks (100 %), appeared during the second decade of life: at first hypofluorescent and then hyperfluorescent after 40 years old. Crystalline bodies (54.1 %), optic nerve head drusen (19 %) and peripheral pigmentation (39.9 %) were found in the various age groups. Macular atrophy (33.5 %) could have resulted from subretinal neovascularization (40.8 %), pattern dystrophies (7.9 %) or subretinal fibrosis (5.3 %). The onset of neovascularization appeared during the fourth decade. DISCUSSION: Progressive centrifugal calcification of Bruch's membrane is the cause of the many fundus features observed in PXE patients. CONCLUSION: Knowledge of the natural history of PXE can help the clinician explain and reassure patients about the evolving risks of ophthalmological involvement, particularly the fact that neovascular complications arise from the fourth decade.
