Copper metabolism in retinitis pigmentosa.
نویسندگان
چکیده
Clinically and electrophysiologically confirmed cases of primary retinitis pigmentosa have been investigated regarding their copper metabolic state. It is observed that these patients show a normal or near normal serum copper concentration, very low plasma caeruloplasmin concentration, and a very high copper urinary excretion. A similarity between this condition and hepatolenticular degeneration is drawn and it is suggested that retinitis pigmentosa may also be a condition caused by an inborn error of copper metabolism.
منابع مشابه
Copper metabolism in American retinitis pigmentosa patients.
Serum copper, serum caeruloplasmin, and urinary copper excretion were measured in 38 American patients (and 15 family members) with recessive, dominant, and X-linked forms of retinitis pigmentosa. No abnormalities were found, in contrast to the findings of a recent study on Indian patients. Our data argue against a role for copper metabolism in ordinary retinitis pigmentosa.
متن کاملClinical copper metabolism parameters in patients with retinitis pigmentosa and other tapeto-retinal degenerations.
Reports have appeared of abnormal copper metabolism in retinitis pigmentosa, and of a family with vitelliform retinal degeneration in which other members suffered from hepatolenticular degeneration. In the present study 15 patients with retinitis pigmentosa, 4 with various other retinal degenerations, and 1 with a family disposition to retinitis pigmentosa were examined. The copper concentratio...
متن کاملCopper metabolism in retinitis pigmentosa patients.
Serum copper, ceruloplasmin, and urinary copper were estimated in 13 normal subjects and 24 patients with primary retinitis pigmentosa. The serum copper levels in patients appeared to be higher and ceruloplasmin levels lower than in the normal subjects. The patients seem to fall into 2 categories with regard to urinary copper. About a third of them excreted 2-4 times more copper in the urine, w...
متن کاملSimultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
متن کاملشب کوری، هتروکرومیا و یووئیت در یک فرد از سلسله بیماران شب‌کور
The classical clinical triad of retinitis pigmentosa is arteriolar attenuation , retinal bone-spicule pigmentation and waxy disc pallor. A 33 year old female patient is introduced here. She had unilateral posterior subcapsular cataract, heterochromic iris, and uveitis.The patient also suffered night blindness , had a family history of low vision ,and reduced visual acuity in her right e...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 60 11 شماره
صفحات -
تاریخ انتشار 1976