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Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration
, 2013 Hiroyuki Sakuramoto +5 more
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<i>CDHR1</i>-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort. [PDF]
Genes (Basel)Takács Á +11 more
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Nasal Retinal Degeneration Is a Feature of a Subset of <i>CRX</i>-Associated Retinopathies. [PDF]
Genes (Basel)Massengill MT +6 more
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A homozygous POC1B variant causes recessive cone-rod dystrophy
Ophthalmic Genetics, 2021Purpose: To report a case of initial cone dystrophy that advanced to a cone-rod dystrophy with homozygous variants in the POC1B gene. Methods: Retinal structure and visual function assessments were performed using fundoscopy, spectral-domain optical ...
Ann-Marie Peturson +2 more
semanticscholar +1 more source
Documenta Ophthalmologica, 1975
Six generations of a family were studied extensively allowing the description of an autosomal dominant dystrophy of both rods and cones. The dystrophy is characterized by onset between ages 6 and 8 with gradual decrease in vision and progression to the point of no light perception.
H M, Hittner +4 more
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Six generations of a family were studied extensively allowing the description of an autosomal dominant dystrophy of both rods and cones. The dystrophy is characterized by onset between ages 6 and 8 with gradual decrease in vision and progression to the point of no light perception.
H M, Hittner +4 more
openaire +2 more sources
Optometry and Vision Science, 1978
Cone-rod dystrophy is considered one of the rarer hereditary retinal degenerations. This disease can be easily mistaken for a number of other conditions because of its unusual characteristics. This paper discusses these characteristics and presents a case report to illustrate how the optometrist can effectively manage patients with this disease.
L C, Norden, J F, Amos, R D, Newcomb
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Cone-rod dystrophy is considered one of the rarer hereditary retinal degenerations. This disease can be easily mistaken for a number of other conditions because of its unusual characteristics. This paper discusses these characteristics and presents a case report to illustrate how the optometrist can effectively manage patients with this disease.
L C, Norden, J F, Amos, R D, Newcomb
openaire +2 more sources
DOMINANT PROGRESSIVE CONE‐ROD DYSTROPHY
Acta Ophthalmologica, 1981The report describes a Finnish family in which retinal lesions associated with a considerable visual loss have been found in 19 probands in 5 consecutive generations. The progressive cone‐rod dystrophy diagnosed in the probands shows an autosomal dominant mode of inheritance. The onset of the disease was noticed in most of the probands early during the
O, Valle, H, Erkkilä, C, Raitta
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