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Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria.
Congenital cataracts are responsible for nearly 10% of all vision loss in children worldwide. Congenital cataracts are one of the most common treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1 to 6 cases per 10,000 live births.
Aphakia is the absence of the lens of the eye, due to surgical removal, such as in cataract surgery, a perforating wound or ulcer, or congenital anomaly. It causes a loss of ability to maintain focus ( accommodation ), high degree of farsightedness ( hyperopia ), [ 1 ] and a deep anterior chamber .
This damage allows fluid from other parts of the eye to rapidly enter the lens leading to swelling and then whitening, obstructing light from reaching the retina at the back of the eye. Cataracts may develop in 0.7 to 8.0% of cases following electrical injuries. [19] Blunt trauma can also result in star- (stellate) or petal-shaped cataracts. [20]
The hip joint is classified as a ball and socket joint. This type of synovial joint allows for multidirectional movement and rotation. There are two bones that make up the hip joint and create an articulation between the femur and pelvis. This articulation connects the axial skeleton with the lower extremity.
[2] [5] At onset vision loss is unilateral, but without treatment it rapidly progresses to involve both eyes. Vision loss is usually severe, ranging from counting fingers to no light perception. Associated symptoms are jaw pain exacerbated by chewing, scalp tenderness, shoulder and hip pain, headache and fatigue. [3] [4]
Hypovolemia, also known as volume depletion or volume contraction, is a state of abnormally low extracellular fluid in the body. [1] This may be due to either a loss of both salt and water or a decrease in blood volume. [2] [3] Hypovolemia refers to the loss of extracellular fluid and should not be confused with dehydration. [4]
The term irritable hip refers to the syndrome of acute hip pain, joint stiffness, limp or non-weightbearing, indicative of an underlying condition such as transient synovitis or orthopedic infections (like septic arthritis or osteomyelitis). [2] In everyday clinical practice however, irritable hip is commonly used as a synonym for transient ...