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Ocular melanosis (OM) is a blue-gray and/or brown lesion of the conjunctiva that can be separated into benign conjunctival epithelial melanosis (BCEM) and primary acquired melanosis (PAM), of which the latter is considered a risk factor for uveal melanoma. [1]
There is evidence that as many as 16 different genes could be responsible for eye color in humans; however, the main two genes associated with eye color variation are OCA2 and HERC2, and both are localized in chromosome 15. [10] The gene OCA2 (OMIM: 203200), when in a variant form, causes the pink eye color and hypopigmentation common in human ...
Periorbital hyperpigmentation, also known as hereditary dark circles, is characterized by darker skin around the eyes caused by the presence of additional melanin. It is an extremely common hereditary human characteristic and is frequently found on individuals with dark skin. Periorbital hyperpigmentation is most prevalent within the 16–25 ...
Pigment dispersion syndrome (PDS) is an eye disorder that can lead to a form of glaucoma known as pigmentary glaucoma. It takes place when pigment cells slough off from the back of the iris and float around in the aqueous humor .
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.
Eye color, specifically the color of the irises, is determined primarily by the concentration and distribution of melanin. Although the processes determining eye color are not fully understood, it is known that inherited eye color is determined by multiple genes. Environmental or acquired factors can alter these inherited traits. [7]
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a harmless, pigmented fundus lesion that can be of various forms: solitary, grouped, and atypical, [1] and are found through clinical eye screenings from digital retinal imaging often established by ophthalmologists. [2]
Leber's congenital amaurosis (LCA) is a collection of inherited, degenerative eye disorders that can reduce the strength of visual clarity or sharpness in infants and can cause childhood blindness. [ 14 ] [ 15 ] These eye disorders are mostly autosomal recessive diseases, and diagnoses of LCA are linked to multiple gene variants, including the ...