Genetic Eye Diseases: Retinitis Pigmentosa and Other Inherited Eye Disorders
نویسنده
چکیده
This volume should be available to all clinicians caring for patients with this confusing group of disorders. Hematologists, geneticists, general surgeons, and pediatricians will find it of great value. Investigators whose field of interest includes the lysosomal storage diseases and the function of lysosomal hydrolases will also find it of value, particularly from the methodological point of view.
منابع مشابه
Simultaneous 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 کاملGenetic eye diseases. Retinitis pigmentosa and other inherited eye disorders. Proceedings of the International Symposium on Genetics and Ophthalmology. Held in Jerusalem, Israel, September 1981.
Will reading habit influence your life? Many say yes. Reading genetic eye diseases retinitis pigmentosa and other inherited eye disorders is a good habit; you can develop this habit to be such interesting way. Yeah, reading habit will not only make you have any favourite activity. It will be one of guidance of your life. When reading has become a habit, you will not make it as disturbing activi...
متن کاملMolecular genetics of inherited eye disorders.
In the past 10 y, there have been considerable advances in the mapping, isolation, and characterization of many genes for important ocular conditions: retinitis pigmentosa, Norrie disease, Waardenburg syndrome, choroideremia, aniridia, retinoblastoma, and others. The candidate gene approach has now supplemented classical linkage studies and positional cloning in the investigation of ocular diso...
متن کاملCauses of Childhood Blindness among Students of Blinds' School in Shiraz, Iran
Background: Causes of blindness in children vary according to the region and socioeconomic development. Within a given country these causes vary with passage of time. This reflects different levels of socioeconomic development and provision of healthcare services. This cross-sectional study was undertaken to estimate the major causes of severe visual impairment in children and specially prevent...
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...
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ورودعنوان ژورنال:
- The Yale Journal of Biology and Medicine
دوره 56 شماره
صفحات -
تاریخ انتشار 1983