Ocular Findings in Hereditary Metaboic Disorders
نویسندگان
چکیده
منابع مشابه
Ocular Findings in a Case of Hereditary Ochronosis.
THE literature apparently contains only four pathological examinations of the eye in hereditary ochronosis, and all of very recent date. The first two were carried out on biopsy material (Seitz, 1954; Rodenhiiuser, 1957) and the other two on the whole eye (Rones, 1960; Allen, O'Malley, and Straatsma, 1961). An ochronotic eye enucleated because of a mistaken diagnosis of malignant melanoma was e...
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Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
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Ultrasonography is a relatively easy, safe and non-invasive examination method which can be used in diagnosis of ocular disorders as complementary to routine ophthalmic examinations. As there has been no collated study undertaken on the normal measurements of ocular structures in Caspian miniature horse, obtaining these measurements could be a benchmark to diagnose some of the diseases and eye ...
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HAEMOCHROMATOSIS is a rare condition, the chief clinical features of which are pigmentation of the skin, cirrhosis of the liver, diabetes mellitus, and hypogonadism. The opportunity of examining the eyes of five patients in whom the diagnosis had been confirmed by liver biopsy arose through the kindness of my colleague, Dr. N. F. Coghill, who is incorporating the clinical and pathological inves...
متن کاملOcular findings in Quarter Horses with hereditary equine regional dermal asthenia.
OBJECTIVE To compare ocular structures of Quarter Horses homozygous for hereditary equine regional dermal asthenia (HERDA) with those of Quarter Horses not affected by HERDA (control horses) and to determine the frequency of new corneal ulcers for horses with and without HERDA during a 4-year period. DESIGN Cohort study of ocular structures and retrospective case series of horses with and wit...
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ژورنال
عنوان ژورنال: Türk Oftalmoloji Dergisi
سال: 2011
ISSN: 1300-0659
DOI: 10.4274/tjo.41.08