Pigment dispersion in a case of Alport's syndrome.
نویسنده
چکیده
The syndrome of hereditary nephritis and perceptive deafness was first recognized by Alport (1927), although reports suggestive of this association date from the latter part of the i8th century. The syndrome has since been widened to include certain ocular defects, such as lenticonus, microspherophakia, and lens opacities, and about IOO families have been described in the world literature. In recent years there have been several detailed reviews of the syndrome (Perkoff, Nugent, Dolowitz, Stephens, Carnes, and Tyler, 1958; Shaw and Glover, I96I; Crawfurd and Toghill, I968), including one of the ophthalmological findings (Arnott, Crawfurd, and Toghill, I966). This present report concerns a new family with previously unrecorded ocular defects.
منابع مشابه
[Macular hole and Alport's syndrome].
CASE REPORT We present the clinical cases of two male patients of 38 and 39 years, diagnosed with Alport's syndrome, who suffered a bilateral macular hole and a giant unilateral macular hole with retinal thinning in the other eye, respectively. DISCUSSION Alport's syndrome is a genetic disorder characterised by mutation of genes encoding type IV collagen, the main component of the internal li...
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A case of anterior lenticonus is reported in a 26 year old man with hemorrhagic nephritis related to familial Alport's syndrome. Anterior lenticonus is seen only as a part of Alport's syndrome. The authors describe its clinical, histologic and therapeutic aspects. They also discuss the other ocular manifestations, the nephritis and the sensorineural deafness.
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Alport's syndrome (Haemorrhagic Familial Nephritis) is a rare syndrome. It encompasses a group of heterogeneously inherited disorders involving the basement membrane of the kidney frequently involving the cochlea and the eye. We describe here the detailed ocular findings and the systemic problems of a case of Alport's syndrome in a 30 years male from Nepal. The current understanding of the clin...
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CONTEXT Patients with Alport's syndrome (causing 5% of end-stage renal disease) have a higher risk of heart conduction abnormalities. OBJECTIVE To report a case of Alport's syndrome developing complete atrioventricular block during renal transplantation. CASE REPORT A 21-year-old man with chronic renal failure due to Alport's syndrome was submitted to a renal transplantation under epidural ...
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Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There ar...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 54 8 شماره
صفحات -
تاریخ انتشار 1970