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Parinaud's syndrome is a constellation of neurological signs indicating injury to the dorsal midbrain. More specifically, compression of the vertical gaze center at the rostral interstitial nucleus of medial longitudinal fasciculus (riMLF). It is a group of abnormalities of eye movement and pupil dysfunction and is named for Henri Parinaud [ 6 ...
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 ...
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 ...
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.
Leber congenital amaurosis. 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 with Leber's hereditary optic neuropathy, which ...
Some infants are born with congenital cataracts, and environmental factors may lead to cataract formation. Early symptoms may include strong glare from lights and small light sources at night and reduced visual acuity at low light levels. [4] [5] Couching was the original form of cataract surgery, and was used from antiquity.
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. These basic features constitute type 2 of the condition; in type 1, there ...