- ►nih.gov - Free from Publisher M Michaelides, DM Hunt, AT Moore - British journal of ophthalmology, 2004 - bjo.bmj.com The cone dystrophies comprise a heterogeneous group of disorders characterised
by visual loss, abnormalities of colour vision, central scotomata, and a
variable degree of nystagmus and photophobia. They may be stationary or ... Cited by 40 - Related articles - BL Direct - All 14 versions
M Michaelides, S Johnson, MP Simunovic, K … - Eye, 2004 - nature.com We have confirmed the reported finding of protan-like D-15 arrangements of
patients with BCM. In addition, we have demonstrated that the Mollon–Reffin
(MR) Minimal test is a useful colour-discrimination test to aid in the ... Cited by 14 - Related articles - All 3 versions
R Ayyagari, LE Kakuk, CL Coats, EL Bingham, … - Mol Vis, 1999 - molvis.org Blue cone monochromacy or BCM (OMIM 303700) is an ocular disorder characterized
by the loss of normal color vision caused by the absence of long-wavelength (L,
“red”) and medium-wavelength sensitive (M, “green”) cone func- tion ... Cited by 19 - Related articles - View as HTML - All 3 versions
WL Park, JS Sunness - American journal of ophthalmology, 2004 - Elsevier Patients with disorders of the cone photoreceptors often have debilitating
photophobia, over and above their decreased visual acuity. This prevents them
from optimal visual functioning in the daytime and even in ordinary indoor ... Cited by 12 - Related articles - All 11 versions
AH Weiss, WR Biersdorf - Journal of pediatric ophthalmology and strabismus - ncbi.nlm.nih.gov Blue cone monochromatism (BCM) is a subtype of achromatopsia in which the blue
cone mechanism predominates. Each of the four patients in this study had BCM
proven by their having peak spectral sensitivities in the blue region of ... Cited by 15 - Related articles - All 2 versions
MP Simunovic, AT Moore - Eye (London, England), 1998 - ncbi.nlm.nih.gov The cone dystrophies are a heterogeneous group of inherited disorders that
result in dysfunction of the cone photoreceptors and sometimes their
post-receptoral pathways. The major clinical features of cone dystrophy are ... Cited by 55 - Related articles - BL Direct - All 2 versions
- ►iovs.org M Michaelides, IA Aligianis, JR Ainsworth, … - Investigative ophthalmology & visual science, 2004 - ARVO RESULTS. The clinical findings in one family member were consistent with a
diagnosis of complete achromatopsia, with nystagmus, photophobia, and poor
visual acuity from early infancy and complete color-blindness, normal ... Cited by 33 - Related articles - BL Direct - All 6 versions
U Kellner, B Wissinger, S Tippmann, S Kohl, … - Graefe's Archive for Clinical and Experimental …, 2004 - Springer Graefe's Arch Clin Exp Ophthalmol (2004) 242:729–735 CLINICAL INVESTIGATION ... Ulrich Kellner Bernd Wissinger Sabine Tippmann Susanne Kohl Hannelore Kraus
Michael H Foerster ... Received: 22 October 2003 Revised: 1 March 2004 ... Cited by 10 - Related articles - BL Direct - All 3 versions
- ►nih.gov B Wissinger, D Gamer, H Jägle, R Giorda, T … - The American Journal of Human Genetics, 2001 - Elsevier We recently showed that mutations in the CNGA3 gene encoding the α-subunit of
the cone photoreceptor cGMP-gated channel cause autosomal recessive complete
achromatopsia linked to chromosome 2q11. We now report the results of a ... Cited by 85 - Related articles - BL Direct - All 8 versions
- ►nih.gov S Kohl, B Baumann, T Rosenberg, U Kellner, … - The American Journal of Human Genetics, 2002 - Elsevier Achromatopsia is an autosomal recessively inherited visual disorder that is
present from birth and that features the absence of color discrimination. We
here report the identification of five independent families with ... Cited by 52 - Related articles - BL Direct - All 11 versions
