Metabolic Disorders, Genetic Abnormalities and Ophthalmology

Introduction: The Metabolic and genetic disorders that affect the eye may result in significant visual disturbance and sometimes blindness. Metabolic disorders which are generally inherited in an autosomal recessive pattern, may present characteristic ocular findings that assist in diagnosis, therefore the ophthalmologist is an invaluable member of the team that cares for these patients.Materials & Methods: Electronically search was done by the terms of Metabolic and genetic disorders as well as Ophthalmology in scientific databases such as Scopus, Pub med, Google Scholar, Web of science and Medline.Results: Reduced or absent function of one or more enzymes in a biochemical pathway reported that are critical for normal function of cell, growth and development. Definite biochemical or molecular genetic diagnosis is essential for treatment, genetic counseling, and monitoring next pregnancies and children. Prompt and accurate diagnosis of the systemic disease aids in determining the prognosis and clinical expectations regarding career and life planning for the affected individual. In addition, it allows the early institution of treatment, when available and the provision of genetic counseling on the risk of recurrence in siblings or in children. Measurement of enzyme levels or mutation analysis of DNA from fetal cells obtained through amniocentesis or chorionic villus sampling allow for prenatal diagnosis of many of these diseases.Conclusion & discussion: According to previous studies, Ophthalmologic findings such as conjunctival vessels anomaly corneal opacities, cataracts, a cherry-red spot as well as retinal degeneration are the earliest signs of metabolic disorders. Advances in molecular biology, biochemistry and enzymology have allowed a better understanding of metabolic diseases and their chemical defects. Laboratory investigation such as serum, leukocytes or cultured skin fibroblasts can be assayed for enzyme activity and molecular testing can be performed if the genetic defect is known, circumventing the need for biopsy of the liver, muscle or other tissues conclusion, investigator suggest newborn screening for enzyme deficiency and Ophthalmology consultant in Iranian population.

کلیدواژه ها:

Metabolic disorders ، Genetic abnormalities ، Eye