Purpose: To study the electroretinographic signals originating in the long-wavelength-sensitive (L) and middle-wavelengthsensitive (M) cone pathways by means of large-field and multifocal cone type-specific electroret...
PURPOSE: To evaluate electroretinography (ERG) during long-term follow-up in birdshot chorioretinopathy (BCR). DESIGN: Retrospective, comparative interventional case series. METHODS: setting: University subspecialty c...
PURPOSE: To report the electrophysiologic findings in a patient with lipaemia retinalis. DESIGN: Observational case report. METHODS: An 11-year-old girl wit h diabetes had hyperlipidemia and presented for ophthalmolog...
Purpose: To quantify retinal function longitudinally and crosssectionally in p atients with autosomal-recessive early-onset severe retinal dystrophy (EOSRD) associated with RPE65 mutations. Subjects and methods: The o...
Background: Isolated functional methionine synthase defi-ciency occurs in the cblE and cblG defects of methylcobalamin metabolism and is one of a number of c auses of severely elevated plasma homocysteine. Clinical fe...
PURPOSE: Paraneoplastic and autoimmune retinopathies are immunologically mediated retinal degenerations that are associated with antibodies directed against any of several retinal proteins, including α-enolase. We re...
Aims: To characterise the detailed phenotype of “cone dystrophy with supernor mal rod ERG”in a case series of 10 patients. Methods: 10 affected patients were examined clinically and underwent colour fundus photograp...
Purpose: To evaluate the donor retina of a patient with X- linked cone- rod dystrophy caused by an RPGR exon ORF15 mutation. Design: Histopathologic study of the retina. Methods: The eye of a 69- year- old man was fix...
Aim: To characterise the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with the Arg844His mutation in RIM1. Methods: Eight members of a four generation, non-consanguineous British family wer...
Background: Duane retraction syndrome (DURS) accounts for 1- 4% of all cases of strabismus. Approximately 90% of the cases are sporadic with a preponderance for females and the left eye. Many associated ocular and sys...