Leber’s Congenital Amaurosis: From 1 Different Sources
a hereditary condition (inherited as an autosomal *recessive) causing severe visual loss in infants. The *fundus usually appears to be normal when examined with an *ophthalmoscope, but marked abnormalities are found on the ERG (see electroretinography), usually with extinguished wave pattern. [T. Leber (1840–1917), German ophthalmologist]
Congenital deformities, diseases, etc. are those which are either present at birth, or which, being transmitted direct from the parents, show themselves some time after birth.... congenital
See ADRENOGENITAL SYNDROME and GENETIC DISORDERS.... congenital adrenal hyperplasia
Sudden transitory impairment, or loss, of vision. It usually affects only one eye, and is commonly due to circulatory failure. In its simplest form it occurs in normal people on rising suddenly from the sitting or recumbent position, when it is due to the effects of gravity. It also occurs in migraine. A not uncommon cause, particularly in elderly people, is transient ocular ISCHAEMIA, resulting from blockage of the circulation to the retina (see EYE) by emboli (see EMBOLISM) from the common carotid artery or the heart. Treatment in this last group of cases consists of control of the blood pressure if this is raised, as it often is in such cases; and the administration of drugs that reduce the stickiness of blood platelets, such as aspirin. In some instances, removal of the part of the carotid artery from which the emboli are coming may be indicated.... amaurosis fugax
A hereditary disease in which blindness comes on at about the age of 20.... leber’s disease
See developmental hip dysplasia.... hip, congenital dislocation of
n. partial or complete blindness. For example, amaurosis fugax is a condition in which loss of vision is transient. See also Leber’s congenital amaurosis. —amaurotic adj.... amaurosis
a rare hereditary disorder, usually affecting young males, that is characterized by loss of central vision due to neuroretinal degeneration. Visual loss in one eye is rapid and usually followed by loss in the second eye. [T. Leber]... leber’s optic atrophy
(CDH) herniation of the fetal abdominal organs into the fetal chest, which occurs in one in 2000–5000 live births. This leads to pulmonary *hypoplasia, which is the main cause of the associated high neonatal mortality. The risk of pulmonary hypoplasia is substantially greater where there is herniation of the liver into the thoracic cavity. CDH is commonly associated with additional structural abnormalities (cardiac, neural tube defects, and exomphalos), and the risk of chromosomal abnormality (*aneuploidy) is 10–20%. Demonstration of a fluid-filled bowel at the level of the heart on ultrasound is diagnostic.... congenital diaphragmatic hernia
(CDH) an abnormality present at birth in which the head of the femur is displaced or easily displaceable from the acetabulum (socket) of the ilium, which is poorly developed; it frequently affects both hip joints. CDH occurs in about 1.5 per 1000 live births, being more common in first-born girls, in breech deliveries, and if there is a family history of the condition. The leg is shortened and has a reduced range of movement, and the skin creases may be asymmetrical. All babies are routinely screened for CDH at birth and at developmental check-ups by gentle manipulation of the hip causing it to be reduced and dislocated with a clunk (see Barlow manoeuvre; Ortolani manoeuvre). The diagnosis is confirmed by X-ray or ultrasound scan. Treatment is with a special harness holding the hip in the correct position. If this is unsuccessful, the hip is reduced under anaesthetic and held with a plaster of Paris cast or the defect is corrected by surgery. Successful treatment of an infant can give a normal hip; if the dislocation is not detected, the hip does not develop normally and osteoarthritis develops at a young age.... congenital dislocation of the hip
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