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The homozygous mutation causes prenatal onset of recurrent fractures of the ribs and long bones, demineralization, decreased ossification of the skull, and blue sclerae; it is clinically type II or type III. [77] Family members who are heterozygous for OI XVI may have recurrent fractures, osteopenia and blue sclerae. [77] [78]
Daentl Townsend Siegel syndrome is a very rare disorder characterized by blue sclerae, kidney malfunction, thin skin, and hydrocephalus. It was first identified by D.L. Daentl et al. in 1978. [ 1 ] Daentl Townsend Siegel syndrome is also known as "Hydrocephalus blue sclera nephropathy" and "Familial nephrosis, hydrocephalus, thin skin, blue ...
Permanent (adult) teeth are not discoloured, or the discolouration is mild (grey colour). Little or no attrition (tooth wear) is evident. The crown of the teeth may be bulbous and markedly constricted at the cemento-enamel junction (CEJ). Radiographically, evidence of partial pulp obliteration with a "thistle-shaped appearance". [3]
The blue tint is caused by the showing of the underlying uveal tract (choroid and retinal pigment epithelium). In those with Ehlers-Danlos syndrome, the sclera may be tinted blue due to the lack of proper connective tissue. [16] In very rare but severe cases of kidney failure and liver failure, the sclera may turn black. [citation needed]
Eye color outside of the iris may also be symptomatic of disease. Yellowing of the sclera (the "whites of the eyes") is associated with jaundice, [82] and may be symptomatic of liver diseases such as cirrhosis or hepatitis. [83] A blue coloration of the sclera may also be symptomatic of disease. [82]
Cyanopsia is most commonly reported in older adults after cataract surgery, where symptoms typically subside within a few days to weeks as the eyes adapt to the synthetic lens. In younger adults, cyanopsia is often caused by medications like sildenafil, with symptoms disappearing once the drug's effects wear off.
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.
Scleritis is a serious inflammatory disease that affects the white outer coating of the eye, known as the sclera.The disease is often contracted through association with other diseases of the body, such as granulomatosis with polyangiitis or rheumatoid arthritis.