Objective: To expand the clinical and genetic spectrum of nemaline myopathy 10 by a series of Austrian and German patients with a milder disease course and missense mutations in .
Methods: We characterized the clinical features and the genetic status of 4 unrelated adolescent or adult patients with nemaline myopathy.
Results: The 4 patients showed a relatively mild disease course.
We report the case of a 56-year-old female patient who presented with an inflamed, ulcerated lesion on the left side of her neck after contact (scratch) with a cat living in the patient's house. Satellite lesions developed despite local treatment and parenteral clindamycin. Histopatholgic examination and the Tzanck test showed evidence of a viral infection.
View Article and Find Full Text PDFPurpose: To describe the histopathologic changes in the cornea following amniotic membrane transplantation (AMT) combined with limbal transplantation.
Methods: Four eyes with complete limbal stem cell deficiency after severe chemical burn underwent AMT with either a living-related conjunctival limbal allograft (lr-CLAL) (three eyes) or a conjunctival limbal autograft (CLAU) (one eye) for ocular surface reconstruction. Penetrating keratoplasty was performed several months after the initial procedure for further visual rehabilitation.