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Glaucoma Genetics Lab

Genetic studies of Cavitary Optic Disc Anomalies (CODA)



A congenital optic nerve disease that resembles normal tension glaucoma (NTG)

Cavitary optic disc anomalies (CODA) is a congenital disease in which the optic nerve is deeply excavated at birth much like cupping that occurs in severe cases of glaucoma (see pictures below).

 

Cavitary optic disc anomalies

 

In rare cases many members of a family have CODA and the disease is passed down from generation to generation as a dominant trait as a shown in the pedigree below.

 

Family tree of CODA affected family members

This is a pedigree or family tree of a family affected with CODA.  The squares represent male family members while the circles represent females.  The family members with black symbols have CODA while those with white symbols don’t have CODA.  It is unknown whether those with grey symbols have CODA.

 

We have collected DNA samples from those with CODA in the family above.  Using a research technique called linkage analysis, we compared the inheritance of genetic markers in the family with the transmission of CODA from generation to generation in the family.  With these investigations we were able to show that the gene that causes CODA is located within a segment of chromosome 12 – a region that corresponds to less than 0.5% of the genome. 

 

Currently, we are systematically testing each of the genes in the segment of chromosome 12 to find the one that is responsible for causing CODA.  Discovery of the gene that causes CODA will help researchers to better understand the disease and may lead to the development of better treatments.

 

Patients that have CODA develop abnormal optic nerves in the absence of high pressure in the eyes, much like the damage that occurs in normal tension glaucoma.  Consequently, it is likely that discovery of the gene that causes CODA may also provide some insights into the causes of normal tension glaucoma.

Our Research

  • Ocular Hypertension Treatment Study
    Ocular Hypertension Treatment Study
  • Pigment Dispersion Syndrome
    Pigment Dispersion Syndrome
  • Normal Tension Glaucoma
    Normal Tension Glaucoma
  • Cavitary Optic Disc Anomalies
    Cavitary Optic Disc Anomalies
  • Patient Responses to Glaucoma Medicines (Pharmacogenomics)
    Patient Responses to Glaucoma Medicines (Pharmacogenomics)
  • Animal Models of Eye Disease
    Animal Models of Eye Disease
  • Exfoliation Syndrome

Genetic Studies of the Ocular Hypertension Treatments Study (OHTS) Participants

OHTS-icon

Project Summary. Eye doctors diagnose patients with glaucoma by taking measurements of key features of the eye that are quantitative or numerical. Some of these quantitative features of glaucoma are eye pressure (measured in mm Hg), thickness of the cornea (measured in microns), the shape of the optic nerve (measured as the cup-to-disc ratio); and the extent of vision loss. The genes that control the magnitude of quantitative features of glaucoma likely contribute risk for developing disease.


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Genetic Studies of Pigment Dispersion Syndrome

pigmentary

Pigment dispersion syndrome is an eye condition in which the pigment from the iris is released within the eye and leads to elevated intraocular pressure and glaucoma in some patients.  Pigment dispersion syndrome may afflict as many as 2.5%.  Those with pigment dispersion syndrome are at high risk for developing a related form of glaucoma, pigmentary glaucoma.

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Genetic Studies of Normal Tension Glaucoma

normal-tensionProject Summary.  Glaucoma often runs in families.  In rare cases, a large number of family members have normal tension glaucoma that is passed down from generation to generation in an obvious pattern.  We have enrolled several such families with normal tension glaucoma into our research program. 

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Genetic Studies of Cavitary Optic Disc Anomalies (CODA)

CODA1Cavitary optic disc anomalies (CODA) is a congenital disease in which the optic nerve is deeply excavated at birth much like cupping that occurs in severe cases of glaucoma.

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Genetic Studies of Patient Responses to Glaucoma Medicines (Pharmacogenomics)

pharmacogenomicsMore information on this research coming soon....

Genetic Studies of Animal Models of Eye Disease

mouseMore information about this research coming soon.....

Exfoliation Syndrome

Exfoliation syndrome is a common condition in which a flaky white material is deposited in many tissues of the eye (the lens, the cornea, and the drainage structures) and throughout the body. Exfoliation syndrome is an important cause of glaucoma as up to half of those with exfoliation syndrome eventually develop a secondary glaucoma (exfoliation glaucoma).

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