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De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal , and neurological abnormalities. [ 2 ] It is usually progressive, manifesting side effects that can include clouded corneas , cataracts , short stature, dystonia , or progeria (premature aging).
The specific molecular mechanism that underpins this movement disorder is not well known. [2] However, most researchers suggest that it follows an autosomal dominant genetic inheritance pattern in which mutations in certain genes give rise to structural abnormalities in nervous system networks responsible for voluntary skeletal muscle movement, which, in turn, result in the functional movement ...
The Chandler variant of ICE is characterized by pathology on the inner surface of the cornea leading to abnormal endothelial pump function. [2] [5] Other features include possible mild iris changes, corneal edema, and normal to slight elevations in intraocular pressure. [1] [5] Cogan-Reese variant is characterized by multiple pigmented iris ...
Congenital stromal corneal dystrophy (CSCD) is an extremely rare, autosomal dominant form of corneal dystrophy. [1] Only 4 families have been reported to have the disease by 2009. [ 2 ] The main features of the disease are numerous opaque flaky or feathery areas of clouding in the stroma that multiply with age and eventually preclude visibility ...
Crystals in the cornea (the clear covering of the eye) Yellow, shiny deposits on the retina; Progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive night blindness and visual field constriction.
Keratitis–ichthyosis–deafness syndrome (KID syndrome), also known as ichthyosiform erythroderma, corneal involvement, and deafness, presents at birth/infancy and is characterized by progressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness.
Ocular synechia is an eye condition where the iris adheres to either the cornea (i.e. anterior synechia) or lens (i.e. posterior synechia). [1] [2] Synechiae can be caused by ocular trauma, iritis or iridocyclitis and may lead to certain types of glaucoma.
If untreated, xerophthalmia can lead to dry eye syndrome, corneal ulceration, and ultimately to blindness as a result of corneal and retinal damage. Xerophthalmia usually implies a destructive dryness of the conjunctival epithelium due to dietary vitamin A deficiency—a rare condition in developed countries, but still causing much damage in ...