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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 ...
It can be useful to enquire about symptoms of osteogenesis imperfecta, as Type I Dentinogenesis Imperfecta (Shield's Classification) is associated with osteogenesis imperfecta. [2] Notable information includes: History of bone fracture caused by minimal trauma; Short stature; Blue sclera; Hearing loss [2] [5]
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.
Brittle-cornea syndrome is characterized by the progressive thinning of the cornea, early-onset progressive keratoglobus or keratoconus, nearsightedness, hearing loss, and blue sclerae. [5] [36] Classic symptoms, such as hypermobile joints and hyperelastic skin, are also seen often. [37] It has two types. Type 1 occurs due to variations in the ...
Diagnosis is generally based on the appearance of the conjunctiva. [2] The condition is relatively common, [4] and both sexes are affected equally. Spontaneous bleeding occurs more commonly over the age of 50 while the traumatic type occurs more often in young males.
An ocular manifestation of a systemic disease is an eye condition that directly or indirectly results from a disease process in another part of the body. There are many diseases known to cause ocular or visual changes.
The diagnosis may be suspected based on symptoms and MRI and confirmed by tissue biopsy. [6] [7] Blood tests may show anaemia, and less commonly a low white blood cell count and low platelet count. [5] Treatment may involve surgery, chemotherapy, radiation therapy, and certain medicines. [7]