Le pseudoxanthome élastique et la myopie

IntroductionNous souhaitons aborder le sujet de la réfraction chez le patient pseudoxanthome élastique (PXE). Nous voulons savoir si le PXE s’accompagne d’une myopie, tout comme le syndrome de Marfan, autre pathologie du tissu élastique. Patients et méthodes Nous avons réalisé une étude transversale chez 53 patients PXE consécutifs (21 hommes, 32 femmes, âge moyen 50 ans ± 16) de septembre 2009 à juin 2011 appariés sur l’âge et le sexe avec 53 témoins. Pour chaque patient, nous avons mesuré l’équivalent sphérique, l’acuité visuelle, la kératométrie (KM), la longueur axiale (LA) et la puissance du cristallin de chaque œil. Les résultats ont été comparés avec le test t de Student. Résultats Notre population PXE avait une myopie moyenne de –0,98 dioptrie versus –0,33 pour la population témoin (p < 0,0093). Cette myopie n’était pas liée à une augmentation de la longueur axiale (23,9 versus 23,69 ; p = 0,236), ni à une cornée plus courbe (43,53 versus 43,44 ; p = 0,68), ni à une puissance cristallinienne plus faible (22,03 versus 21,71 ; p = 0,225). Discussion Le PXE provoque une calcification des fibres élastiques dans plusieurs tissus (peau, rétine, parois vasculaires). Or, il n’y a pas de fibre élastique ni dans la cornée ni dans le cristallin, mais dans la zonule. Celle-ci pourrait être pathologique chez le patient PXE et expliquer une position du cristallin plus en avant que chez nos patients témoins. Conclusion Le PXE s’associe à une myopie significativement plus élevée que dans une population saine. Des études intégrant plus de patients avec une évaluation de la profondeur de la chambre antérieure et une étude histologique de la zonule pourraient aider à comprendre cette tendance à la myopie

Carotid rete mirabile and pseudoxanthoma elasticum: an accidental association?

We report the case of a young female patient with a transient amaurosis due to a carotid rete mirabile (CRM), a rare congenital carotid malformation, and pseudoxanthoma elasticum (PXE), an inherited autosomal recessive systemic metabolic disorder characterised by fragmentation and mineralisation of elastic fibres in connective tissues (skin, eyes) and the vascular system. CRM is a rare form of intracranial carotid malformation whose association with PXE (6 cases at present) would appear not to be accidental. This observation suggests a new link between congenital arterial remodelling and the PXE

Étude du fond d’œil en fonction de l’âge dans le pseudoxanthome élastique chez 158 patients

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\u27orange (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\u27s 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

New insights into the visual prognosis of pseudoxanthoma elasticum

International audienc

Blue light-filtering intraocular lenses and post-operative mood: a pilot clinical study

The purpose of the study was to determine if implantation of blue-filtering intraocular lenses (IOLs) affects post-operative mood, inducing more depression, compared to patients undergoing implantation with conventional IOLs. The study was conducted at the Angers University Hospital, France. This was a prospective with a lowercase pilot study, including consecutive patients planned to undergo cataract surgery in both eyes within 1 week. The same type of IOL was used in both eyes of each patient. The choice of IOL was not randomized but driven by the habits and experience of each participating surgeon. Cognitively healthy patients (an MMSE score higher than 25) were assessed before and after surgery, using the 30-item geriatric depression scale (GDS) to seek symptoms of depression. Univariate and multiple logistic regressions were used to examine the association between the type of IOL and the 30-item GDS score improvement during the 3 months after lens implantation, while adjusting for participants\u27 characteristics (age, visual acuity). Blue-filtering IOLs were used in 16 patients (mean +/- standard deviation, 75.6 +/- 7.5 years; 75 % female), and untinted IOLs in 18 patients (77.3 +/- 6.9 years; 77.8 %female). Pre-operatively visual acuity and GDS scores were comparable in the two groups. The post-operative GDS score was improved by 1.91 +/- 3.10 points in the whole sample (P = 0.002), as well as in each subgroup of patients. Three months after surgery, the mean change in GDS score did not differ between groups (P = 0.365), nor did the mean visual acuity (P = 0.198)

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ABCC6 gene, resulting in various retinal lesions, among other systemic manifestations. Visual loss may occur in PXE, most commonly caused by choroidal neovascularization and macular atrophy, but little is known about the consequences of fundus pulverulentus (FP) in PXE. The aim of this study was to evaluate ophthalmic outcomes in patients with FP associated with PXE in a large series of PXE patients. METHODS: In a retrospective observational study, ophthalmic outcomes were compared between two groups of age-matched patients with genetically and pathologically confirmed PXE: one group with FP versus one without FP. All included patients underwent thorough clinical examination. Further investigation (optical coherence tomography (OCT), Cirrhus, Zeiss Germany, and/or fluorescein/indocyanin green angiography) was performed in cases of suspected choroidal neovascularization (CNV). RESULTS: The study included 13 PXE patients with FP (group 1: 8 men and 5 women, aged 45-65 years) and 47 age-matched PXE patients without FP (group 2: 19 men and 28 women). Mean patient follow-up was 63 months (range 0-132 months). Subretinal fibrosis (SRF) was more frequently associated with FP (9/26 eyes, 34.6%), compared to absence of FP (4/94, 4.2%) (p = 0.0001). Independently of SRF, FP can evolve into deep macular atrophy and/or CNV with dramatic consequences for central vision. CONCLUSIONS: Fundus pulverulentus may occur in PXE and is most commonly associated with subretinal fibrosis in the posterior pole and visual loss by macular atrophy even in the absence of CNV

A study of optic nerve head drusen in 38 pseudoxanthoma elasticum (PXE) patients (64 eyes). Location of optic nerve head drusen in PXE

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