Type 2 tends to affect both eyes and people of all sexes, with a slight female preponderance, as opposed to Type 1, which most often affects only one eye and is congenital. Type 3 macular ...

At the moment, treatment of congenital ichthyosis relies on topical ... the first FDA-approved therapy for idiopathic macular telangiectasia type 2.

Encelto, the first FDA-approved treatment for MacTel, is implanted intravitreally during a surgery performed by a qualified ophthalmologist. The Food and Drug Administration (FDA) has approved ...

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. Scientists at the Icahn School of Medicine at Mount Sinai and ...

Revakinagene taroretcel-lwey (Encelto; Neurotech), an allogeneic encapsulated cell-based gene therapy, is the first therapy to be approved for macular telangiectasia type 2. The FDA approved ...

We thank Michèl Willemsen and colleagues for their interest in the ATTeST trial of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia. 1 The two doses studied in ...

aDepartment of Pediatrics (Pediatric Neurology), Amalia Children's Hospital, Radboud University Medical Center, Nijmegen 6500, Netherlands ...

ABNORMALITIES of somatic-cell chromosomes have been associated with some cases of leukemia, with Down's syndrome (mongolism) and with certain other congenital defects (reviewed by Ford 1).

The development of infants with congenital hypothyroidism has been revolutionised with the institution of early and adequate treatment afforded by screening, thereby preventing intellectual impairment ...

Eye movement abnormalities are among the earliest clinical manifestations of inherited and acquired neurodegenerative diseases and play an integral role in their diagnosis. Eyelid movement is ...

Nowadays, congenital gene mutations are the broadly acceptable etiology of vascular malformations ... Some genetic diseases, such as hereditary hemorrhagic telangiectasia or capillary ...

2 Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Background Brain arteriovenous malformations (BAVM) represent a congenital anomaly of the cerebral vessels with a ...