Muscular dystrophies are a heterogeneous class of inherited disorders presenting with different clinical, genetic, and biochemical features. Muscular dystrophies include Duchennemuscular dystrophy (DMD) and Becker muscular dystrophy (BMD) myotonic dystrophy (DM), oculopharyngeal muscular dystrophy (OPMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), dist...

Rett syndrome is a rare neurodegenerative disease, characterized by a year of normal development, followed by rapid mental and physical deterioration. A review of the medical literature reveals only limited research on ocular abnormalities in this population. The purpose of this paper is to investigate visual findings in a cohort of patients with Rett syndrome. Seven females with Rett syndrome ...

PURPOSE To evaluate ophthalmic ultrasound findings in the three presentation forms of ocular toxocariasis (peripheral or posterior pole granulomas and chronic endophthalmitis), in patients with confirmed diagnosis of ocular toxocariasis. METHODS 11 patients (11 eyes) with clinical and confirmed diagnosis of active ocular toxocariasis, presented positive ELISA test, were analyzed, prospectivel...

Ocular melanoma is rare in clinical practice. In this study, we present three cases of ocular melanoma surgically removed in the Department of Ophthalmology of the Emergency University Hospital of Bucharest, Romania, and diagnosed in the Department of Pathology of the same hospital using conventional histopathological techniques and immunohistochemical tests.

PURPOSE To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature. METHODS Ten new cases of Jacobsen syndrome were collected and studied prospectively for detection of...

OBJECTIVE To evaluate the frequencies of various eye and/or orbital disorders by ultrasound examination in patients with ocular trauma. MATERIALS AND METHODS This prospective and descriptive study was conducted on 100 patients with ocular trauma treated in the Conde de Valenciana Institute from March to November 2014. Ultrasound examination was performed primarily using ultrasound B mode, wit...