Study of fundus examination by age in 158 pseudoxanthoma elasticum patients

• Published in: Journal francais d'ophtalmologie Vol. 41; no. 7; p. 592
• Main Authors: Pipelart, V, Leruez, S, Martin, L, Navasiolava, N, Henni, S, Ebran, J-M
• Format: Journal Article
• Language: French
• Published: France 01.09.2018
• Subjects: Adolescent; Adult; Age Factors; Aged; Aged, 80 and over; Child; Cohort Studies; Cross-Sectional Studies; Female; Fundus Oculi; Humans; Male; Middle Aged; Pseudoxanthoma Elasticum - diagnosis; Pseudoxanthoma Elasticum - epidemiology; Pseudoxanthoma Elasticum - pathology; Retrospective Studies; Young Adult; Membrane de Bruch; Atrophie de l’épithélium pigmenté de la rétine; Bruch membrane; Calcification; Pseudoxanthome élastique; Pseudoxanthoma elasticum; Retinal pigment epithelial atrophy
• ISSN: 1773-0597
• DOI: 10.1016/j.jfo.2018.03.003

To study the prevalence of fundus anomalies among patients with pseudoxanthoma elasticum as a function of their age. All patients have had a complete ophthalmologic examination in multidisciplinary consultation for PXE in a national reference center. 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. Progressive centrifugal calcification of Bruch's membrane is the cause of the many fundus features observed in PXE patients. 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.