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Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects XY karyotypes.
In cyanopsia, these photoreceptors, particularly the ones sensitive to blue light (short-wavelength cones), are overstimulated or affected, leading to an exaggerated perception of blue hues. Cyanopsia is a symptom rather than a disease, below are some factors that may cause Cyanopsia: [5] Cataract in human eye . Post-Cataract Surgery:
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
The irises of human eyes exhibit a wide spectrum of colours. Eye color is a polygenic phenotypic trait determined by two factors: the pigmentation of the eye's iris [1] [2] and the frequency-dependence of the scattering of light by the turbid medium in the stroma of the iris.
Blue eye disease is caused by the porcine rubulavirus, which first emerged in 1980 throughout parts of Mexico, including La Piedad, Michoacan, Jalisco, and Guanajuato. The virus is transmitted directly and indirectly by fomites and birds and can be found throughout the body, including neurons and most soft tissues.
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
Photopsia; This is an approximation of the zig-zag visual of a scintillating scotoma as a migraine aura. It moves and vibrates, expanding and slowly fading away over the course of about 20 minutes.
HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders.It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C-terminal HECT domains and one or more RCC1-like (RLD) domains.