Results 201 to 210 of about 37,333 (227)
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Rod increment thresholds in cone-rod dystrophy
Applied Optics, 1989Rod 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 +4 more
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Cone-rod dystrophy in Danon disease
Graefe's Archive for Clinical and Experimental Ophthalmology, 2012In 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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Keratoconus Associated With Cone-Rod Dystrophy
Cornea, 2002A 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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High-Resolution Retinal Imaging of Cone–Rod Dystrophy
Ophthalmology, 2006This study examines a patient with cone-rod dystrophy using high-resolution adaptive optics retinal imaging. Conventional ophthalmoscopes provide limited resolution due to their inability to overcome the eye's optical aberrations. In contrast, adaptive optics ophthalmoscopes correct these aberrations to provide noninvasive high-resolution views of the ...
Jessica I, Wolfing +4 more
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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 +4 more
semanticscholar +1 more source
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 +4 more
semanticscholar +1 more source
Cone-Rod Dystrophy and Acquired Dissociated Vertical Nystagmus
Journal of Pediatric Ophthalmology & Strabismus, 2005Although usually a manifestation of vestibular or neurological disease, acquired nystagmus occasionally can be seen in ocular diseases such as ocular albinism and cone dystrophy. The present case of cone-rod dystrophy presenting with acquired dissociated vertical nystagmus probably demonstrates another unusual manifestation of cone-rod ...
Raju, Sampangi +3 more
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Macular Cysts in Clinical Cone-rod Dystrophy
Ophthalmic Genetics, 2013To 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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2014
The cone and cone–rod dystrophies are a heterogeneous group of disorders, both in terms of clinical features and underlying genetic basis, that are a major cause of childhood blindness and arguably the most devastating of inherited retinal conditions due to the loss of central vision at an early stage.
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The cone and cone–rod dystrophies are a heterogeneous group of disorders, both in terms of clinical features and underlying genetic basis, that are a major cause of childhood blindness and arguably the most devastating of inherited retinal conditions due to the loss of central vision at an early stage.
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ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy
Human Genetics, 2020Gao-Hui Zhou +5 more
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