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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 ...
Intraocular hemorrhage is classified based on the location of the bleeding: Hyphema (in the anterior chamber); Suprachoroidal hemorrhage (SCH) is a rare complication of intraocular surgery in which blood from the ciliary arteries enters the space between the choroid and the sclera.
The eye wall is composed of three layers that lie flat against each other to form the eyeball. The external layer is a tough, white membrane called the sclera with a clear dome at the front of the eye called the cornea. The line where the sclera and cornea converge is known as the limbus. [5]
Child displaying typical facial phenotype of Kabuki syndrome. Specific symptoms for Kabuki syndrome vary, with large differences between affected individuals. [3] Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose and a downward slant to the mouth.
The prognosis is poor if liver, spleen, lung, or bone marrow is affected. [7] A good response to chemotherapy within the first six weeks of treatment, has been found to indicate a better prognosis. In some people the condition is life-threatening. [7] Hence, follow-up is long-term. [7]
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.
Subconjunctival bleeding initially appears bright red underneath the transparent bulbar conjunctiva. Later, the bleeding may spread and become green or yellow as the hemoglobin is metabolized.