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About our Studies

Study Disorders

Amyotrophic Lateral Sclerosis (ALS)

Anencephaly

Attention Deficit/Hyperactivity Disorder (AD/HD)

Chiari Malformations and Syringomyelia

Early Onset Cardiovascular Disease

Familial Focal Segmental Glomerulosclerosis (FSGS)

Glaucoma

Multiple Sclerosis (MS)

Myopia

Neural Tube Defects (NTD)

Ophthalmic Genetic Disorders

Sickle Cell Disease (SCD)


Study Participant FAQ
Clinical Staff

Ophthalmic Genetics

Overview

The current number of human eye disorders that have a genetic or hereditary component is impressive and continues to grow with time. For example, an internet search for the term "eye" on the website "Online Mendelian Inheritance in Man" yields 850 entries. The scientific literature reports identification of nearly 500 genes that contribute to hereditary eye disorders. Specific changes or mutations within over 150 of these genes have been cited as having an association with cataracts, glaucoma, retinitis pigmentosa, eye tumors, and corneal and retinal dystrophies. Better defining these mutations associated with hereditary eye disorders has deepened our understanding of both normal and abnormal eye development, and has laid the groundwork for the future development of treatment strategies for these disorders.

Hereditary ophthalmologic disorders may be isolated (only affecting the eye) or part of a syndrome when associated with other physical findings. Isolated or non-syndromic eye disorders can be inherited in a family in a number of different ways, with the risk for unaffected family members to have a child with an eye disorder being dependent upon the pattern of affected individuals within the family. Examples of non-syndromic hereditary eye disorders include microphthalmia, anophthalmia, strabismus, and congenital glaucoma. Syndromes that involve eye disease as a component of the condition include blepharophimosis-ptosis-epicanthus-inversus syndrome (BPES), oculocutaneous albinism, Marfan syndrome, Stickler syndrome, and CHARGE (coloboma, heart anomalies, atresia of the choanae, retardation of growth and development, genital/urinary anomalies, ear abnormalities or deafness) syndrome.

Several isolated eye disorders and genetic syndromes with an ophthalmologic component now have identifiable gene mutations known to cause disease. Ophthalmologists are often on the "front line" in evaluating individuals and families with such conditions. A greater knowledge of the clinical and molecular features of these disorders is important for accurate diagnosis, appropriate genetic counseling, and application of treatment strategies targeted at the individual's diagnosis and genetic status. This knowledge can only be gained through continued research.

The Duke Center for Human Genetics and the Department of Ophthalmology at Duke University Medical Center is currently conducting a genetic study called "The Clinical and Molecular Analysis of Genetic Eye Disorders" to identify the genes responsible for developmental causes of vision loss and blindness. By studying individuals and families with hereditary eye disorders, we hope to gain a better understanding of the role these genes play in causing disease, which may lead to new methods of treatment directed at the specific cause of the disease.

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Research Review

There are well over 1800 syndromes that involve eye disease as a component, and further individual and family case reports of hereditary eye disorders not yet classified. Specific mutations identified in over 150 genes are associated with isolated hereditary eye disorders and genetic syndromes with an ophthalmologic element. The goal of this research is to further delineate the genes involved in these disorders and the specific roles they play in causing eye disease. A major step in accomplishing this goal is to gather information from a large number of families. In collaboration with other universities in the United States, we have enrolled more than 50 families thus far.

The success of human genetic research, such as gene identification studies, requires the combined efforts of many. Individuals with hereditary eye disorders and their family members are the most important members of this team. The other members of this research team include medical geneticists, genetic epidemiologists, molecular biologists, genetic counselors, physician assistants, reseach analysts, and data and laboratory technicians.

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Study Team

Terri Young, MD Principal Investigator / Pediatric Ophthalmologist
Quintin DeGroot Study Coordinator
Amy Dameron Genetic Counselor

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Publications

As Duke CHG researchers continue to define the genetic causes of ophthalmic genetic disorders, they publish their findings in leading academic journals and share their knowledge with colleagues at meetings and conferences.
Ophthalmic Genetics Research Publications

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Additional Information

Support Group and Information Resources

ICAN: International Children's Anophthalmia and Microphthalmia Network
c/o Center for Developmental Medicine and Genetics
5501 Old York Road
Genetics, Levy 2 West
Philadelphia PA 19141
Toll-free: 1-800-580-ican
Email: ican@anophthalmia.org

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Phone: (203) 744-0100
Toll free: (800) 999-6673 (voicemail only)
Fax: (203)798-2291
Email: orphan@rarediseases.org

AboutFace International
123 Edward St, Suite 1003
Toronto, Ontario, Canada M5G 1E2
Phone: (416) 597-8494
Toll free: 1-800-665-3223
Fax: (416) 597-8494
Email: info@aboutfaceinternational.org

Children's Craniofacial Association
PO Box 280297
Dallas TX 75243-4522
Phone: (972) 944-9902
Fax: (972) 240-7607

Sturge-Weber Syndrome Community
P.O. Box 24890
Lexington, KY 40524-4890
Phone: (859) 272-3857
Email: swsc@swscommunity.org

The National Craniofacial Association (FACES)
PO Box 11082
Chattanooga TN 37401
Toll-free: 1-800-332-2373
Email: faces@faces-cranio.org

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