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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.
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 ...
Persistent fetal vasculature (PFV), also known as persistent fetal vasculature syndrome (PFVS), and until 1997 known primarily as persistent hyperplastic primary vitreous (PHPV), [1] is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully ...
The superior semicircular canal dehiscence syndrome ( SSCDS) is a set of hearing and balance symptoms that a rare disease/disorder of the inner ear 's superior semicircular canal/duct induces. [ 3][ 4][ 5] The symptoms are caused by a thinning or complete absence of the part of the temporal bone overlying the superior semicircular canal of the ...
Genetic ( autosomal recessive) [ 1] Frequency. 1 in 40,000 newborns [ 1] Leber congenital amaurosis ( LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. [ 2] It affects about 1 in 40,000 newborns. [ 1] LCA was first described by Theodor Leber in the 19th century. [ 3][ 4] It should not be confused ...
Specialty. Neurology. Congenital fourth nerve palsy is a condition present at birth characterized by a vertical misalignment of the eyes due to a weakness or paralysis of the superior oblique muscle. Other names for fourth nerve palsy include superior oblique palsy and trochlear nerve palsy. [1] When looking to the right/left the nerve/muscle ...
[2] [3] Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in all its forms accounts for over 95% of diagnosed cases of all types of congenital adrenal hyperplasia. [4] Unless another specific enzyme is mentioned, CAH in most contexts refers to 21-hydroxylase deficiency, and different mutations related to enzyme impairment have ...
Childhood cataracts are the primary cause of childhood blindness. [4] Childhood cataracts make up 7.4% to 15.3% of blindness in kids. [4] The prevalence of childhood cataracts ranges from 0.63/10,000 to 9.74/10,000 children, with a median of 1.71. [6] This is dependent on factors like economic status but not gender or laterality. [6]
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