cone dystrophy


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cone dys·tro·phy

a retinal abnormality in which color perception is severely deficient and typical changes occur in electroretinogram. See: achromatopsia.
Synonym(s): cone degeneration
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
The differential diagnosis includes Stargardt disease, cone dystrophy, enhanced S-cone syndrome, pericentral retinitis pigmentosa, syphilitic placoid chorioretinitis, acute zonal occult outer retinopathy (AZOOR), posterior scleritis, traumatic retinopathy (commotio retinae), posterior uveitis, hydroxychloroquine toxicity, and autoimmune retinopathy [18-22].
Full field electroretinography (ffERG) showed a pattern consistent with cone dystrophy for cases 1 and 3 (Supplementary Figure 1).
Variant lists generated for each proband were first screened for rare variants (<1% minor allele frequency) in 52 genes related to pattern dystrophy, macular dystrophy, cone dystrophy, cone-rod dystrophy, rod-cone dystrophy, and cone photoreceptor development and function, including cone opsin genes (Supplementary Table 1).
PCD may be a nonspecific rare presentation of cone dystrophy, and this is supported by pathogenic variants associated with macular dystrophy in all patients without a consensus candidate gene among them.
An environmental agent or pathogen may create an autoimmune response against short wavelength (S-cone) photoreceptors modulated by a pathogenic variant in cone dystrophy genes like RP1L1.
Kondo et al., "Peripheral cone dystrophy: a variant of cone dystrophy with predominant dysfunction in the peripheral cone system," Ophthalmology, vol.
Ikeda, "Peripheral cone dystrophy in an elderly man," Clinical and Experimental Ophthalmology, vol.
Hwang, "Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography," Korean Journal of Ophthalmology, vol.
It wasn't until 1996, when Dean's eyesight got worse, that rod and cone dystrophy was diagnosed.