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Volume 2, Issue 2 (Suppl)
Optom open access
ISSN: 2476-2075 OMOA, an open access journal
Ophthalmologists 2017
September 25-26, 2017
Page 14
conference
series
.com
September 25-26, 2017 Dubai, UAE
11
th
Global
Ophthalmologists Annual Meeting
Metabolic and genetic disorders that affect the eye
M
etabolic and genetic disorders that affect the eye may cause significant visual disturbances and sometimes blindness.
Furthermore, metabolic disorders may have characteristic ocular findings that assist in their diagnosis, making the
ophthalmologist an invaluable member of the team that cares for these patients. Metabolic disorders generally are inherited in
an autosomal recessive fashion. There is reduced or absent function of one or more enzymes in a biochemical pathway that is
critical to normal cellular function, growth and development. Accurate biochemical or molecular genetic diagnosis is essential
for treatment for genetic counseling and for monitoring future 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.
Ophthalmologic findings such as corneal opacities, cataracts, a cherry-red spot and 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. 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. The systemic and ophthalmologic manifestations of IEOM from newborn screening in which the
enzyme deficiency results in visually significant or diagnostic ocular manifestations in Saudi population shows 16 diseases
are screened for and the overall incidence is 1-1222 for live newborns. This is at least three to four times higher than average
reported worldwide incidence.
Biography
Dr Selwa A. F. Al-Hazzaa; MD; FRCS (ophth) is a Shura Council Member
Professor of Ophthalmology; College of Medicine; Alfaisal University
Acting Chair; Dept. of Ophthalmology
Senior Clinical Scientist & Consultant in Genetics; Research Center
King Faisal Specialist Hospital & Research Center
Female Advocate & influential personality in Saudi Arabia
Named Arab Woman of year and most powerful Arab Woman by Forbes
hazzaa@kfshrc.edu.saSelwa A. F. Al-Hazzaa
King Faisal Specialist Hospital & Research Center, Kingdom of Saudi Arabia
Selwa A. F. Al-Hazzaa, Optom open access 2017, 2:2 (Suppl)
DOI: 10.4172/2476-2075-C1-004