Among the topics are inheritance patterns, ethical issues, primary congenital glaucoma and juvenile open angle glaucoma, Margan syndrome and other causes of ectopic lentis, familial exudative vitreoretinopathy, retinitis pigmentosa, cone-rod dystrophy, enhanced S-cone
syndrome and other NR2ES-related retinal dystrophies, congenital stationary night blindness, optic nerve hypoplasia, and Leber hereditary optic neuropathy.
(1,2) GFS and enhanced S-cone
syndrome represent two distinct entities on a spectrum of retinal degenerative disease caused by mutations in the same gene.
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].
Cortical OFF-potentials from the S-cone
pathway reveal neural damage in early glaucoma.
The blue and yellow color deficiency is called tritanomaly and affects the S-cone
, creating a blue-yellow weakness.
Washington, Sept 2 (ANI): A new study has provided insight into the molecular basis of a rare retinal degenerative disease called Enhanced S-Cone
Syndrome, also known as Goldman-Favre Syndrome.
Professor Leo Peichl of Germany's Max Planck Institute considered that because the spectral composition of light in clear ocean waters increasingly becomes blue with depth, S-cone
loss would seem particularly disadvantageous.
 were used: [beta]-actin, forward 5'-GACGAAGCCCAGAGCAAA-3', reverse 5'-CCAG AGGCATACAGGGACAG-3'; S-cone
, forward 5'-GAGT ATTTCGCCTGGTTCCTT-3', reverse 5'-CCTTCTGGGTT GTAGCTGATT-3'; M-cone, forward 5'-TCATCGCATCC ATCTTTACCA-3', reverse 5'-AGCACGAAGTAGCCGT AGACC-3'.
Studies in the literature concerning BCD have reported pathologic ERG responses at non-detectable levels, (1,12,13) a- and b-wave amplitude attenuation on scotopic strong flash ERG, (14) reduced rod b-wave amplitude, (1,15) attenuated a- and b-wave amplitudes on photopic ERG, (15,16) decreased 30-Hz flicker amplitude, (1,16) and abnormal S-cone
(64) However, the design of an optimal filter is further complicated by the presence of the short wavelength sensitive cone (S-cone
), whose sensitivity curve shows some overlap with those of the long wavelength sensitive cone (L-cone) and medium wavelength sensitive cone (M-cone).
To determine the degeneration patterns of L-opsin and S-opsin in rd11 mice, PNA, the cone-specific marker, which specifically binds to the cone interphotoreceptor matrix sheath , was used to identify the overall cone cells combined with L- or S-opsin staining to identify specific L-or S-cone
cells with frozen section.
This predominance has been attributed to the susceptibility to damage of the short wavelength sensitive cone (S-cone
) pathway (eg the cones themselves, their connections, or the ganglion cells to which they connect) by, for example, high intraocular pressure (IOP) (4) or hypoxia.