5 rezultate
A 33-year-old man with Refsum disease exhibited clinical features of night blindness, dysequilibrium, hearing loss, itchy dry skin, symmetrical polyneuropathy, distal muscle weakness, pes cavus, and hammer toe. His total serum protein was increased, nerve conduction velocities were slow, and serum
OBJECTIVE
To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery.
METHODS
Retrospective chart review at an academic tertiary referral centre.
METHODS
Thirty eyes from 18 patients with retinitis
We reported two siblings of Leber's congenital amaurosis associated with increased level of very long chain fatty acid (VLCFA) in blood. Case 1, a 3 1/2-year-old boy had congenital blindness, severe psychomotor retardation, hepatomegaly, profound hypotonia, loss of deep tendon reflexes, muscular
We here report a 53-year-old man who presented with motor and sensory polyneuropathy, retinitis pigmentosa and diffuse idiopathic skeletal hyperostosis (DISH). He had a 15-year history of diabetes mellitus (DM). Visual impairment appeared at 17 years of age. Since age 47, he showed a slowly
Inborn errors of metabolism may impact on muscle and peripheral nerve. Abnormalities involve mitochondria and other subcellular organelles such as peroxisomes and lysosomes related to the turnover and recycling of cellular compartments. Treatable causes are β-oxidation defects producing progressive