Results 141 to 150 of about 15,202 (200)

prominin-1-null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy and RPE atrophy.

J Cell Sci
Carr BJ, Skitsko D, Kriese LM, Song J, Li Z, Ju MJ, Moritz OL.   +6 more
europepmc   +1 more source

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome [PDF]

, 2020
openaire   +1 more source

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy. [PDF]

Invest Ophthalmol Vis Sci, 2019
Collison FT, Fishman GA, Nagasaki T, Zernant J, McAnany JJ, Park JC, Allikmets R.   +6 more
europepmc   +1 more source

A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report. [PDF]

Medicine (Baltimore), 2018
Wang L, Qi A, Pan H, Liu B, Feng J, Chen W, Wang B.   +6 more
europepmc   +1 more source

Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. [PDF]

Sci Rep, 2019
Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T.   +15 more
europepmc   +1 more source

Isolated Cone Dystrophy With Secondary Macular Involvement Mimicking Vascular Insult and Optic Atrophy: A Case Report. [PDF]

Cureus
Varghese DE, Sudhakar S.
europepmc   +1 more source

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Dominant cone-rod dystrophy

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, A L, Murphree, C A, Garcia, J, Justice, D B, Chokshi   +4 more
openaire   +2 more sources

Cone-Rod Dystrophy

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
openaire   +2 more sources