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disease: Oculocutaneous albinism type 4

id5663
nameOculocutaneous albinism type 4
descriptionOculocutaneous albinism type 4 (OCA4) is characterized by hypopigmentation of the hair and skin plus the characteristic ocular changes found in all other types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia associated with reduction in visual acuity; and misrouting of the optic nerves at the chiasm associated with alternating strabismus, reduced stereoscopic vision, and an altered visual evoked potential (VEP). Individuals with OCA4 are usually recognized within the first year of life because of hypopigmentation of the hair and skin and the ocular features of nystagmus and strabismus. Vision is likely to be stable after early childhood. The amount of cutaneous pigmentation in OCA4 ranges from minimal to near normal. Newborns with OCA4 usually have some pigment in their hair, with color ranging from silvery white to light yellow. Hair color may darken with time, but does not vary significantly from childhood to adulthood.
variant-disease NM_016180.4(SLC45A2):c.469G>A (p.Asp157Asn) AND Oculocutaneous albinism type 4
NM_016180.4(SLC45A2):c.1368+1G>T AND Oculocutaneous albinism type 4
NM_016180.4(SLC45A2):c.1457C>T (p.Ala486Val) AND Oculocutaneous albinism type 4
NM_016180.4(SLC45A2):c.563-1G>A AND Oculocutaneous albinism type 4
NM_016180.4(SLC45A2):c.986del (p.Thr329Lysfs) AND Oculocutaneous albinism type 4
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