[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.

[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.

[Reversible optic neuropathy related to disulfiram]. / Neuropathie optique réversible liée au disulfirame.

OBJECTIVE: To report a case of bilateral optic neuropathy, possibly caused by disulfiram. PATIENTS AND METHODS: Clinical case report. RESULTS: A 46-year-old patient, treated with disulfiram for the past 4 years for chronic alcoholism, presented with progressive bilateral, painless, severe visual loss, related to optic neuropathy. An extensive work-up did not disclose any other possible cause than a toxic optic neuropathy caused by disulfiram. Discontinuation of disulfiram resulted in rapid, complete visual recovery. CONCLUSION: Disulfiram can cause toxic optic neuropathy, which can recover after discontinuing the medication, even after a long period of intoxication.