Cases reported "Amblyopia"

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1/3. The ophthalmological findings in autosomal recessive severe juvenile arteriosclerosis.

    Severe juvenile arteriosclerosis (JAS) is a rare, fatal disease with probably autosomal recessive inheritance. Precocious arterial murmurs and calcification of aorta and major arteries are associated with anaemia, growth retardation, prolonged systolic hypertension, gradual renal failure, gastrointestinal perforations, and early death. The ophthalmological findings in 5 boys and 1 girl between 7 and 17 years of age were retinal vascular tortuosity of main vessels, pre-capillary arterioles and post-capillary venules, sausage-like bulging of central main arterioles and microaneurysms of arterioles of the central fundus. Narrowing and local constriction was a typical feature of peripheral arterioles. The combination of findings documented by fluorescein angiography in 4 children was typical for severe juvenile arteriosclerosis.
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2/3. Fundus changes in acute malnutritional optic neuropathy.

    A peculiar dilation and tortuosity of small retinal vessels within the arcuate areas of the retinal nerve fiber layer occurred in a series of patients with acute malnutritional optic neuropathy ("tobacco-alcohol amblyopia"). These evanescent vascular abnormalities may be caused by arteriovenous shunting. They seem to be specific indicators of the early phase of this disease.
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3/3. Coats' disease in a patient with Cornelia de lange syndrome.

    A 16-month-old boy had the mental and physical retardation, low-pitched cry, phocomelia with syndactyly, hirsutism, low-set ears, bushy eyebrows, elongated eyelashes, blepharoptosis, and strabismus characteristic of Cornelia de lange syndrome along with ophthalmoscopic findings characteristic of Coats' disease. cryotherapy made the abnormal telangiectatic vessels less prominent, but macular scarring produced poor visual acuity. Occlusion therapy was unsuccessful.
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