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.

[Study of fundus examination by age in 158 pseudoxanthoma elasticum patients]. / 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'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.

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.

[Treatment with ranibizumab for choroidal neovascularization secondary to a pseudoxanthoma elasticum: Results of the French observational study PiXEL]. / Traitement par ranibizumab des néovascularisations choroïdiennes secondaires à un pseudoxanthome élastique : résultats de l'étude observationnelle française PiXEL.

INTRODUCTION: Pseudoxanthoma elasticum (PXE), a rare hereditary connective tissue disorder, may be complicated by angioid streaks (AS) and choroidal neovascularization (CNV), which may lead to irreversible loss of visual acuity (VA). Here we describe the safety and efficacy of ranibizumab in patients with CNV secondary to PXE. METHODS: A multicenter (n=23), observational study of a retrospective/prospective cohort, performed under real world conditions in France in all patients with CNV secondary to PXE who received at least one ranibizumab injection as of October 2011. The study objectives were to describe the mean annual number and reason for ranibizumab injections since initiation, evolution of best-corrected visual acuity (BCVA by Early Treatment Diabetic Retinopathy Study [ETDRS] letters), and safety. RESULTS: Patients (n=72; 98 eyes) had a mean age of 59.6±8.3years and consisted of 54.2% men. The criterion for retreatment was based mainly on loss of VA, progression of CNV and angiographic leakage. CNV was primarily subfoveal or juxtafoveal (73.4%), and the initial mean VA was 64.6 ETDRS letters. On average, visual acuity of all eyes analyzed was relatively stable during the 2-year follow-up (62.3 letters vs 64.6 letters at the first injection), and 88.6% of eyes maintained VA between -15 and +15 letters or gained over 15 letters. No deaths or new intolerances were described. CONCLUSIONS: These results showed that ranibizumab was able to maintain stable VA in clinical practice for at least 2years in patients with CNV secondary to PXE, and to significantly reduce the frequency of neovascularization relapses, with a limited number of injections. The treatment was well tolerated by the patients.

[Systemic conditions associated with central and branch retinal artery occlusions]. / Apports du bilan étiologique des occlusions de l'artère centrale de la rétine et de ses branches et conséquences thérapeutiques.

INTRODUCTION: Retinal artery occlusions (RAO) are severe conditions threatening vision, affecting the subsequent mortality of these patients. PATIENTS AND METHODS: We retrospectively reviewed the work-up performed in all patients diagnosed with retinal artery occlusions evaluated in two university hospitals in France (Tours and Angers). RESULTS: A total of 131 patients (131 eyes) with RAO were included, with a mean age of 69.5years and male predominance (64 %). Central retinal artery occlusion (CRAO) resulted in poor initial visual acuity (90 % less than count fingers), whereas those with branch retinal artery occlusion (BRAO) had better visual acuity (63.6 % better than 20/40). Systemic arterial hypertension (HTN) was the most common associated risk factor. Carotid stenosis was found in 50 % of cases, leading to endarterectomy in nine patients (6.9 %), while an underlying cardiac cause was implicated in 14 % of cases. Giant cell arteritis was diagnosed in five patients (3.8 %). DISCUSSION: Work-up of RAO may detect treatable cardiovascular and systemic conditions, allowing prevention of further ocular recurrence or stroke. CONCLUSION: Etiologic work-up of retinal arterial occlusion can diagnose potentially treatable underlying systemic conditions, such as giant cell arteritis, cardiac conditions and extracranial cerebrovascular disease. Giant cell arteritis has to be ruled out at the acute phase, while the role and timing of semi-urgent testing (supra-aortic Doppler echography, echocardiography, electrocardiography, lab work-up) or delayed testing (transesophageal echocardiography, brain imaging) have yet to be determined.

[Myopia in pseudoxanthoma elasticum]. / Le pseudoxanthome élastique et la myopie.

INTRODUCTION: Refraction in patients with pseudoxanthoma elasticum (PXE) has not yet been studied in the literature. The purpose of our study was to determine if PXE may be associated with myopia, similarly to Marfan syndrome, another collagen-vascular disease. PATIENTS AND METHODS: This cross-sectional study evaluated 53 consecutive patients (32 women and 21 men, mean age 50 ± 16) from September 2009 to June 2011, with 53 age- and sex-matched controls. For each patient, we measured spherical equivalent, visual acuity, keratometry, axial length and crystalline lens power of each eye. Results were compared with Student's t-test. RESULTS: There was a significant difference between the mean values of myopia in the PXE population (-0.98) compared to the group of healthy controls (-0.33, P<0.0093). There was no significant difference between the two groups for the axial length (23.9 mm versus 23.69 mm; P=0.236), keratometry (43.53 versus 43.44; P=0.68), lens power (22.03 versus 21.71; P=0.225). DISCUSSION: PXE induces calcification of elastic fibers in various human tissues (skin, retina, vascular walls). Since there are no elastic fibers in the cornea or lens, we assume that the elastic zonular fibers may be pathologic in PXE patients. This could result in an anterior displacement of the lens in PXE, which could explain the moderate myopia. CONCLUSION: PXE may be associated with mild myopia compared to healthy controls. Additional studies, including more patients and evaluating anterior chamber depth and zonular histology are necessary to confirm these preliminary findings.

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.

[Retinal lesions in pseudoxanthoma elasticum: 51 patients]. / Lésions rétiniennes dans le pseudoxanthome élastique : 51 cas.

OBJECTIVE: Description of retinal lesions in patients with pseudoxanthoma elasticum (PXE). PATIENTS AND METHODS: This cross sectional study evaluated 51 consecutive patients (31 women and 20 men, mean age, 47 years±16) from June 2008 to September 2010. Clinical and fundoscopic evaluations were performed for each patient with fundus images: colour, red-free, autofluorescence of the central retina, and red-free of the retinal periphery. Several patients were examined with fluorescein angiography, indocyanine green angiography, or optical coherence tomography when neovascular complications were suspected. RESULTS: In addition to classical angioid streaks and "peau d'orange" aspects, we identified several other retinal lesions: pattern dystrophy, drusen of the optic nerve, peripheral "comet tail" lesions, subretinal fibrosis, and autofluorescent perimacular white spots, suggesting atrophy of the pigmented epithelium overlying the "peau d'orange" lesions, which appeared earlier, with onset subsequently followed by angioid streaks. The incidence of "peau d'orange" decreased with age. Subretinal fibrosis and pattern dystrophy of the macula were often associated and occurred around 40 years of age. The risk of neovascular complications increased with age. CONCLUSION: Macular decompensation most often occurring around the age of 50 is a common event in PXE, associated with aging, disappearance of "peau d'orange", changes in angioid streaks, and development of atrophy of the retinal pigment epithelium.

[Phacoemulsification: advantages of a consultation the day after surgery?]. / Phacoémulsification : intérêt de la visite du lendemain ?

INTRODUCTION: Cataract surgery is the most frequent surgery in France. The D1 consultation limits the extension of ambulatory care to patients who can return on their own the day after sugery. We assessed the usefulness of this systematic D1 consultation in terms of therapeutic modifications. MATERIAL AND MéTHODE: Retrospective study of patients who underwent cataract surgery in a teaching hospital from february to july 2006. The major parameter was the modification of postsurgical treatment after the D1 consultation. RESULTS: Of the 380 operated eyes studied, the patients included 145 men and 235 women, the mean age was 73.8 years (range, 43-92), 86% underwent conventional hospitalization, 70% had been operated by a senior surgeon, and 66% had no suture. At the D1 visit, 11 modifications (2.9%) were recorded: one case of athalamia, one Seidel-positive test, four cases of high IOP (>30mmHg), and five severe inflammations of the anterior segment. All the treatment changes were reported in the group of hospitalized patients, none were reported in the ambulatory patients. Of the 380 eyes studied, only one required sutures at D1, the other treatment changes were minor. CONCLUSIONS: The low output of the D1 visit raises the problem of its relevance in terms of public health. In most of the English-speaking and Scandinavian countries, patients have only one postoperative visit at 1 month. Patients could receive written and oral recommendations and a hotline number to contact the surgical team, which could allow the D1 visit to be discontinued for standard patients with uncomplicated surgery.

Description of microangiopathy in children with type 1 diabetes mellitus: a 19-year retrospective study.

BACKGROUND: The aim of the study was to estimate the outcome of patients with type 1 diabetes followed in a university hospital in the paediatric department and then in the adult diabetic department for at least 10 years. METHODS: We made a retrospective analysis of 50 patients (28 women and 22 men) with type 1 diabetes with disease duration of 19 +/- 6 years and analysed whether retinopathy and nephropathy had progressed, had remained unchanged or had improved or normalised. RESULTS: The mean age of diabetes onset was 8 +/- 4 years (1-16). Ketoacidosis revealed diabetes in 36% of the children. Mean HbA(1c) was 8.6 +/- 1.8%, and was over 8.5% in 34% of the patients. The mean age at onset of puberty (Tanner stage II) was 12 +/- 1 years in girls and 13 +/- 1 years in boys. Mean HbA(1c) was 7.9 +/- 1.2% during the year before onset of puberty and 8.7 +/- 1.1% in the following 3 years, corresponding to a 10% pubertal increase in HbA(1c). Retinopathy was seen in 50% of the patients at a mean age of 22 +/- 5 years, 15 +/- 6 years after onset of diabetes. Mean HbA(1c) was 9.7 +/- 1.6% in patients with proliferative retinopathy, 9.0 +/- 1.5% in patients with non proliferative retinopathy, and 8.1 +/- 1.3% in those without (p=0.02, proliferative versus no retinopathy, p > 0.05 non proliferative versus no retinopathy). Microalbuminuria was diagnosed in 26% of the patients. Mean HbA(1c) was 9.3 +/- 2.1% in patients with microalbuminuria versus 8.1 +/- 1.3% in those with normoalbuminuria (p=0.02). CONCLUSIONS: Glycemic control was similar in patients with non proliferative retinopathy and those without. Proliferative retinopathy and nephropathy were both related to the level of glycemic control.

[The reconstruction of the lacrimal pathway in the common canaliculus surgery]. / La reconstruction de la loge lacrymale dans la chirurgie du canal d'union.

We describe a new technique for restoring lacrimal pathway anatomy in common canaliculus surgery. Fourteen patients (4 men and 10 women), with a mean age of 59 +/- 19 years, suffering from chronic epiphora caused by common canaliculus stenosis were operated on (18 procedures: 14 unilateral, 4 bilateral). We used a modified Dupuy-Dutemps technique. The anterior face of the lacrimal sac was cut as a flap, which was secured with the posterior nasal mucosal flap for the posterior anastomosis plane. The common canaliculus stenosis and the external face of the lacrimal sac were excised guided by the operating microscope so as to put in place a bicanalicular device, which was left for 6 months. The anterior plane of anastomosis was made of a Goretex((R)) patch or PTFE((R)) (Polytetrafluoroethylene((R))) placed under the deep face of the orbicularis muscle. The procedure was successful in 15 of the 18 cases (success rate: 83.3%). Among the three failures, two were due to the early loss of the bicanalicular stent and one to anastomosis fibrosis. This technique made it possible to restore lacrimal pathway anatomy, which was severely modified by the dacryocystorhinostomy procedure and to protect the anastomosis from fibrosis by the surrounding tissues. Biomaterials such as Goretex((R)) and PTFE((R)) are valuable tools for this technique. In common canaliculus stenosis, restoring the lacrimal pathway with biomaterials such as Goretex((R)) or PTFE((R)) improves the functional results.

Proliferative retinopathy in patients with type 1 diabetes of less than 5 years' duration.

The position statement about diabetic retinopathy postulates that at least 3-5 years of duration of diabetes are needed for the retinopathy to occur, and initial retinal examination should be performed within 3-5 years after the initial diagnosis. We report here the case of a 18 year-old type 1 diabetic woman with a proliferative retinopathy discovered 2 years after the onset of a clinical diabetes. The hypothesis of a Latent Autoimmun Diabetes in Adults (LADA) could not be excluded and we propose, particularly in this context, to detect a diabetic retinopathy at the onset of diabetes.

[Scintigraphy of the lacrimal ducts. Value of the lateral incidence in postoperative period]. / Scintigraphie des voies lacrymales. Intérêt de l'incidence latérale en postopératoire.

Lacrimal scintillography, a simple, non traumatic, and physiological method, has been for a long time an useful exploration in the study excretory pathology. It allows an accurate diagnosis especially in the case of functional stenosis and, due to its ability to indicate the exact seat of obstruction, this technique is able to determine the surgical treatment required. This study underlines the contribution of lacrimal scintillography in the control of surgical anastomosis permeability, because of a modification in the initial technique: the use of scintillography in employing the lateral view rather than the front view, usually used, permits a better visualisation of the new surgically created excretory passage, particularly in the posterior area of nasal fossae.

[Scintigraphy of the lacrimal ducts: the value of the lateral view in the postoperative period]. / Scintigraphie des voies lacrymales: intérêt de l'incidence latérale en postopératoire.

Lacrimal scintillography, a simple, non traumatic, and physiological method, has been for a long time an useful exploration in the study of lacrimal excretory pathology. It allows an accurate diagnosis especially in the case of functional stenosis and, due to its ability to indicate the exact seat of obstruction, this technique is able to determine the surgical treatment required. This study underlines the contribution of lacrimal scintillography in the control of surgical anastomosis permeability, because of a modification in the initial technique: the use of scintillography in employing the lateral view rather than the front view, usually used, permits a better visualisation of the new surgically created excretory passage, particularly in the posterior area of nasal fossae.

[Chronic alcohol-tobacco poisoning: towards an early detection of optic neuropathy]. / Intoxication alcoolo-tabagique chronique: vers un dépistage précoce de la neuropathie optique.

Forty-two patients (33 men, 9 women) with normal visual acuity admitted to an alcoholism rehabilitation programme were evaluated for colour vision using the automatized Fransworth-Munsell test (ChromopsR) and for central visual field using Friedmann's analyser. An early colour blindness without axis, i.e. a lack of colour discrimination, was often found. At the same time, in the more intoxications perimetric defects appeared in the 30 degrees area first centrally, then followed by arcuate superior scotomas.

[Congenital ectropion of the iris epithelium and glaucoma]. / Ectropion congénital de l'épithélium irien et glaucome.

Two cases of unilateral ectropion uveae with ipsilateral juvenile glaucoma are reported including one with ipsilateral ptosis. This rare, non progressive anomaly, is characterized by the presence of iris pigment epithelium on the anterior surface of iris stroma, quite often associated with neurofibromatosis, ipsilateral ptosis or Rieger's syndrome. Congenital or juvenile glaucoma is almost systematically associated with the condition and must be evaluated and treated. Pathogeny of the anomaly has to be interpreted keeping in mind the concept of neurocristopathy, i.e. developmental anomalies of neural crest origin tissues.