Background: Wilson’s disease is an autosomal recessive genetic disorder resulting from an abnormality of copper metabolism. The excessive accumulation of copper in the brain induces an extrapyramidal syndrome. Oculomotor abnormalities occur in most extrapyramidal disorders but have rarely been studied in Wilson’s disease. Objective: To evaluate the ocular motility manifestations of Wilson’s disease. Methods: A prospective study of 34 patients affected by Wilson’s disease who were recruited and their ocular motility recorded by electro-oculography (EOG). Results: Vertical smooth pursuit was abnormal in 29 patients (85%). Vertical optokinetic nystagmus and horizontal smooth pursuit were impaired in 41 % and 41 % of patients, respectively. No ...
Leber's hereditary optic neuropathy (LHON) is amaternally inherited mitochondrial disease that ...
Purpose: To identify the underlying molecular genetic cause in a Czech family with optic atrophy, d...
PURPOSE: To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus ...
Background: Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadi...
Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is chara...
Aims: To describe previously unreported retinal findings in patients with Alport Syndrome (AS), as w...
Abstract Wilson’s disease (WD) is an autosomal recessive disorder characterized by the functional di...
Case report: A 42-year-old man was diagnosed with band or «bow tie » optic atrophy with a right homo...
Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by conge...
PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial feat...
Aim: To examine whether visual restitution training (VRT) is able to change absolute homonymous fiel...
Purpose: Alagille syndrome is a complex hereditary disorder associated with cardiac, hepatic, skelet...
Contains fulltext : 196429.pdf (publisher's version ) (Open Access)BACKGROUND: ATP...
Objective This study evaluated the current state of patients with Wilson disease in central Japan. P...
Contains fulltext : 87522.pdf (publisher's version ) (Closed access)PURPOSE: To de...
Leber's hereditary optic neuropathy (LHON) is amaternally inherited mitochondrial disease that ...
Purpose: To identify the underlying molecular genetic cause in a Czech family with optic atrophy, d...
PURPOSE: To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus ...
Background: Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadi...
Introduction: Menkes disease is a rare X-linked recessive disorder of copper metabolism. It is chara...
Aims: To describe previously unreported retinal findings in patients with Alport Syndrome (AS), as w...
Abstract Wilson’s disease (WD) is an autosomal recessive disorder characterized by the functional di...
Case report: A 42-year-old man was diagnosed with band or «bow tie » optic atrophy with a right homo...
Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by conge...
PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial feat...
Aim: To examine whether visual restitution training (VRT) is able to change absolute homonymous fiel...
Purpose: Alagille syndrome is a complex hereditary disorder associated with cardiac, hepatic, skelet...
Contains fulltext : 196429.pdf (publisher's version ) (Open Access)BACKGROUND: ATP...
Objective This study evaluated the current state of patients with Wilson disease in central Japan. P...
Contains fulltext : 87522.pdf (publisher's version ) (Closed access)PURPOSE: To de...
Leber's hereditary optic neuropathy (LHON) is amaternally inherited mitochondrial disease that ...
Purpose: To identify the underlying molecular genetic cause in a Czech family with optic atrophy, d...
PURPOSE: To report novel TIMP3 mutations, and to characterize the ocular phenotype of Sorsby fundus ...