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A detailed phenotypic study of “cone dystrophy with supernormal rod ERG”

- nih.gov - Free from Publisher
M Michaelides, GE Holder, AR Webster, DM … - British Journal of Ophthalmology, 2005 - bjo.bmj.com
Results: The onset of symptoms was in the first and second decades of life.
Subjects presented with reduced central vision and marked photophobia. All
individuals were myopic and colour vision testing revealed severely reduced ...
Cited by 13 - Related articles - All 9 versions

A substitution of G to C in the cone cGMP-phosphodiesterase γ subunit gene found in a …


N Piri, YQ Gao, M Danciger, E Mendoza, GA … - Ophthalmology, 2005 - Elsevier
The DNAs of the 240 probands were screened for sequence variants in the PDE6H
gene (that encodes the inhibitory γ-subunit of cone cyclic guanosine
monophosphate [cGMP]-phosphodiesterase [PDE]) by single-strand conformation ...
Cited by 10 - Related articles - All 11 versions

Cone dysfunction and supernormal scotopic electroretinogram with a high-intensity stimulus


M Kato, R Kobayashi, I Watanabe - Documenta Ophthalmologica, 1993 - Springer
Page 1. Documenta Ophthalmologica 84: 71-81, 1993. © 1993 Kluwer Academic
Publishers. Printed in the Netherlands. Cone dysfunction ...
Cited by 14 - Related articles - BL Direct - All 3 versions

Retinal cone dysfunction of supernormal rod ERG type


T Rosenberg, SE Simonsen - Acta ophthalmologica, 1993 - interscience.wiley.com
Abstract. Five patients, not related to each other, showed clinical signs,
including electroretinograms, of a retinal dysfunction which mainly affected die
cone system, but also involved the rod responses in a peculiar way. ERG ...
Cited by 14 - Related articles - BL Direct - All 3 versions

Sites of disease action in a retinal dystrophy with supernormal and delayed rod …


DC Hood, AV Cideciyan, DA Halevy, SG … - Vision Research, 1996 - Elsevier
Delayed rod ERGb-waves in patients with an unusual retinal dystrophy have been
attributed by some to an abnormality in receptor cGMP activity. Here the sites
of disease action are studied by analyzing rod and cone ERGs using new ...
Cited by 20 - Related articles - BL Direct - All 5 versions

A detailed phenotypic study of $# x0201c; cone dystrophy with supernormal rod ERG $# …


M Michaelides, GE Holder, AR Webster, DM … - The British Journal of Ophthalmology, 2005 - ukpmc.ac.uk
Results: The onset of symptoms was in the first and second decades of life.
Subjects presented with reduced central vision and marked photophobia. All
individuals were myopic and colour vision testing revealed severely reduced ...
Related articles

Effects of IBMX on the rod ERG of the isolated perfused cat eye: antagonism with light, …


BS Pawlyk, MA Sandberg, EL Berson - Vision research, 1991 - ncbi.nlm.nih.gov
Full-field electroretinograms (ERGs) were recorded from isolated cat eyes
perfused through the ophthalmociliary artery with the cGMP-PDE inhibitor,
3-isobutylmethylxanthine (IBMX). Under dark-adapted conditions perfusion ...
Cited by 15 - Related articles - All 3 versions

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause “ …

- nih.gov
H Wu, JA Cowing, M Michaelides, SE Wilkie, … - The American Journal of Human Genetics, 2006 - Elsevier
“Cone dystrophy with supernormal rod electroretinogram (ERG)” is an
autosomal recessive disorder that causes lifelong visual loss combined with a
supernormal ERG response to a bright flash of light. We have linked the ...
Cited by 15 - Related articles - BL Direct - All 7 versions

Rod electroretinograms in an elevated cyclic guanosine monophosphate-type human retinal …

- iovs.org [PDF] 
MA Sandberg, S Miller, EL Berson - Investigative ophthalmology & visual science, 1990 - ARVO
Unusual rod electroretinogram (ERG) intensity-response functions were recorded
from three female patients with retinal degeneration who had visual acuities of
20/200, retinal arteriolar narrowing, and diffuse granularity of the ...
Cited by 31 - Related articles - All 3 versions

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or …


AG Robson, M Michaelides, VA Luong, GE … - British Journal of Ophthalmology, 2008 - bjo.bmj.com
Results: Subjects had annuli of high density AF that bordered central areas of
low density in older RPGR cases and most RIMS1 cases. The size of the AF ring
correlated with age and enlarged with time in two subjects. High-density ...
Cited by 7 - Related articles - BL Direct - All 3 versions


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