منابع مشابه
Albinism: modern molecular diagnosis.
Albinism is no longer a clinical diagnosis. The past classification of albinism was predicated on phenotypic expression, but now molecular biology has defined the condition more accurately. With recent advances in molecular research, it is possible to diagnose many of the various albinism conditions on the basis of genetic causation. This article seeks to review the current state of knowledge o...
متن کامل[Albinism: diagnosis by visual evoked potentials].
BACKGROUND In albinism the majority of the nerve fibers of the optic nerve originating from an eye are innervating the contralateral hemisphere. As a result of the predominantly monocular innervation of the left and right hemispheres, the unilateral activation of the visual cortex (lateralization) can be detected with visual evoked potentials (VEP). PATIENTS AND METHODS The VEPs were elicited...
متن کاملMolecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population
Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six genes have been identified in individuals with nsOCA. Here, we determined the identities, frequencies, and clinical consequences of OCA alleles in 94 previousl...
متن کاملAlbinism, Partial Albinism, and Vitiligo
Albinism, partial albinism, and vitiligo are three clinically distinct conditions having in common a deficiency of melanin pigment. As such they present the physician with the same basic problems-cosmetically disfiguring lesions and extreme sensitivity to sunlight of the involved areas. None of the diseases is itself an immediate threat to life, but the social disabilities, especially among dar...
متن کاملMolecular Diagnosis of Familial Hypercholesterolemia
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1998
ISSN: 0007-1161
DOI: 10.1136/bjo.82.2.189