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Medical genetics. Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus .
Nystagmus. Nystagmus is a condition of involuntary (or voluntary, in some cases) [1] eye movement. [2] People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. [3] In normal eyesight, while the head rotates about an axis, distant visual images are sustained by ...
Specialty. Dermatology. Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
Ocular albinism. Specialty. Endocrinology. Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. [ 1] There are multiple forms of ocular albinism, which are clinically similar. [ 2]: 865. Both known genes are on the X chromosome.
Monochromacy (from Greek mono, meaning "one" and chromo, meaning "color") is the ability of organisms to perceive only light intensity without respect to spectral composition. Organisms with monochromacy lack color vision and can only see in shades of grey ranging from black to white. Organisms with monochromacy are called monochromats.
Craniofrontonasal dysplasia ( craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene ( EFNB1 ). [1] [2] Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males.
Surgery works by changing the shape of the cornea. [5] Far-sightedness primarily affects young children, with rates of 8% at 6 years old and 1% at 15 years old. [9] It then becomes more common again after the age of 40, known as presbyopia, affecting about half of people. [4]
Congenital blindness is a hereditary disease and can be treated by gene therapy. Visual loss in children or infants can occur either at the prenatal stage (during the time of conception or intrauterine period) or postnatal stage (immediately after birth). [3] There are multiple possible causes of congenital blindness.