Results 161 to 170 of about 40,110 (209)

Keratoconus Associated With Cone-Rod Dystrophy

Cornea, 2002
A 31-year-old man with bilateral keratoconus associated with apical corneal scarring underwent uneventful penetrating keratoplasty in his left eye. Postoperatively his best-corrected visual acuity did not improve beyond 20/120. Examination of the fundus revealed features suggestive of bull's eye maculopathy.
Rajesh, Fogla, Geetha K, Iyer
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Temporal aspects of the electroretinogram in cone-rod dystrophy

Documenta Ophthalmologica, 1985
Twelve patients with cone-rod dystrophy were studied in terms of the temporal aspects of electroretinography (ERG). The peak time of scotopic b-wave was within normal limits in all patients, while the amplitude was reduced in nine patients. The normal peak time of the scotopic-b wave may help explain rod involvement with normal or only slightly ...
M, Horiguchi, Y, Miyake, K, Yagasaki, K, Ichikawa   +3 more
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Cone-rod dystrophy in Danon disease

Graefe's Archive for Clinical and Experimental Ophthalmology, 2012
In this issue, Thiadens and colleagues report ophthalmoscopic findings of macular disruption and physiologic findings of cone-rod dystrophy in two of four cousins from a family with Danon disease, a rare X-linked disorder characterized by muscle weakness, cardiomyopathy, and mental impairment, which has been mapped to mutations in the ...
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Rod increment thresholds in cone-rod dystrophy

Applied Optics, 1989
Rod system increment threshold functions (ITFs) were studied in patients with cone-rod dystrophy (CRD). Rod thresholds (I(t)) for a 104-min, 500-nm test stimulus (TS), superimposed on an 11 degrees long wavelength background (luminance I(b)), were measured in eleven CRD patients and fourteen normal subjects.
D W, Yates, D J, Derlacki, D R, Pepperberg, K R, Alexander, G A, Fishman   +4 more
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Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy

American Journal of Medical Genetics Part A, 2008
AbstractThere are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone‐rod dystrophy, without other significant impairments. The entity was named SMD‐CRD.
Sousa, Sérgio B., Russell-Eggitt, Isabelle, Hall, Christine, Hall, Bryan D., Hennekam, Raoul C. M.   +4 more
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Visual acuity changes in cone and cone‐rod dystrophies

Ophthalmic and Physiological Optics, 2011
Citation information: Prokofyeva E, Troeger E, Bernd A & Zrenner E. Visual acuity changes in cone and cone‐rod dystrophies. Ophthalmic Physiol Opt 2011. doi: 10.1111/j.1475‐1313.2011.00883.x
Prokofyeva, Elena, Troeger, Eric, Bernd, Antje, Zrenner, Eberhart   +3 more
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DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1.

Retinal cases & brief reports, 2017
PURPOSE To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously.
Hamed Al Sulaiman, Patrik Schatz, S. Nowilaty, Ehab Abdelkader, Leen Abu Safieh   +4 more
semanticscholar   +1 more source

Progressive cone–rod dystrophy

Clinical Eye and Vision Care, 1999
Abstract Inherited macular dystrophies present with varying clinical signs. They possess significant overlap with other inherited retinal dystrophies and with several acquired retinal degenerations. A classification system for diagnostic purposes is crucial.
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Chromosome 19q Cone-Rod Retinal Dystrophy

Archives of Ophthalmology, 1995
To describe the phenotype in a family with dominantly inherited cone-rod dystrophy with chromosome assignment to a 19q locus, and to correlate this with current classifications of this retinal dystrophy.A detailed clinical examination including Goldmann perimetry was undertaken in all family members. Six members under the age of 30 years underwent dark-
Evans, Kevin, Duvall-Young, Josephine, Fitzke, Fred W., Arden, Geoffrey B., Bhattacharya, Shom Shanker, Bird, Alan C.   +5 more
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Macular Cysts in Clinical Cone-rod Dystrophy

Ophthalmic Genetics, 2013
To the editorSir: In their study of the prevalence of macular cysts in clinical cone-rod dystrophy, Salvatore and colleagues1 found none of 36 clinical cone-rod dystrophy patients had macular cysts...
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