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Oculocutaneous albinism is a form of albinism involving the eyes ( oculo- ), the skin ( - cutaneous ), and the hair. [ 1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. [ 1] OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [ 2]
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.
Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. [ 1][ 2] Individuals with the condition are referred to as albinos . Varied use and interpretation of the terms mean that written reports of albinistic animals can be difficult to verify.
Horizontal optokinetic nystagmus. The optokinetic reflex ( OKR ), also referred to as the optokinetic response, or optokinetic nystagmus (OKN), is a compensatory reflex that supports visual image stabilization. [ 1] The purpose of OKR is to prevent image blur on the retina that would otherwise occur when an animal moves its head or navigates ...
Nystagmus as seen in a case of ocular albinism. The cause of pathological nystagmus may be congenital, idiopathic, or secondary to a pre-existing neurological disorder.It also may be induced temporarily by disorientation (such as on roller coaster rides or when a person has been spinning in circles) or by some drugs (alcohol, lidocaine, and other central nervous system depressants, inhalant ...
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.
Protein losing enteropathy(PLE) is a syndrome in which blood proteinsare lost excessively via the gastrointestinal (GI) tract. It may be caused by many different underlying diseases that damage the lining of the GI tract (mucosa) or cause blockage of its lymphatic drainage. [3] Signs and symptoms. [edit]
Friedreich's ataxia. Friedreich's ataxia ( FRDA or FA) is an autosomal-recessive genetic disease that causes difficulty walking, a loss of coordination in the arms and legs, and impaired speech that worsens over time. Symptoms generally start between 5 and 20 years of age.