Ocular disease awareness and pattern of ocular manifestation in patients with biopsy-proven lung sarcoidosis

Purpose: The aim of this research is to study the patterns of ocular involvement in patients with biopsy-proven lung sarcoidosis and estimate the level of patients' awareness of possible ocular complications of sarcoidosis. Methods: Fifty patients with biopsy-proven lung sarcoidosis were referred from the Department of Respiratory Medicine, University Hospital of Larissa, Greece. Results: The most prominent ocular symptom was foreign body sensation in 15/50 patients (30%); only 6/50 of our patients (12%) were completely asymptomatic with respect to ocular symptoms. Anterior segment findings were: episcleritis in 8/50 patients (16%), iris nodules in 9/50 patients (18%), and cataract in 19/50 patients (38%). Periphlebitis was observed in 8/50 patients (16%), periarteritis in 8/50 patients (16%), epiretinal membrane in 6/50 patients (12%), and branch retinal vein occlusion in 7/50 of our patients (14%). Ten out of 50 patients (20%) had never visited an ophthalmologist before, whereas eight out of 50 patients (16%) had undergone an ophthalmic exam more than 2 years ago. Conclusions: Eye involvement is common in patient with biopsy-proven lung sarcoidosis and may occur even without prominent ocular symptoms. © 2011 The Author(s)

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

Pompe disease (OMIM 232300), a glycogen storage disorder caused by deficiency in the lysosomal enzyme acid alpha-glucosidase (EC 3.2.1.20), results in weakness and cardiomyopathy in infants affected with the classic form. Although the primary disease manifestations are due to glycogen accumulation in skeletal and cardiac muscle, glycogen also accumulates in a variety of additional tissues. To improve our understanding of disease pathogenesis in long-term survivors, we reviewed postmortem results for three infants with the classic form of Pompe disease. We have observed a number of new complications in long-term survivors of infantile-onset Pompe disease, and we focused this postmortem study on pathological correlates. Findings in survivors include cardiac arrhythmias, which may be related to glycogen accumulation in cardiac conduction tissue; urinary incontinence, likely due to glycogen accumulation in smooth muscle; and refractory errors, possibly related to accumulation in ocular structures. These observations provide potential pathophysiologic correlates for complications in long-term survivors of infantile Pompe disease