Disease at a Glance

Summary
Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab’s striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.

About Glaucoma 3 primary infantile B

Many rare diseases have limited information. Currently GARD is able to provide the following information for Glaucoma 3 primary infantile B:

  • Population Estimate:This section is currently in development.
  • Symptoms:This section is currently in development.
  • Experts:GARD is not currently aware of a specialist directory for this condition.
  • Organizations:GARD is not aware of organizations specific to this condition. 

Categories

Symptoms

This information is currently in development. 

Causes

This section is currently in development. 

Advocacy and Support Groups

How can a patient organization be helpful?

Patient advocacy and support organizations offer many valuable services and often drive the research and development of treatments for their disease(s). Because these organizations include the life experiences of many different people who have a specific disease, they may best understand the resources needed by those in their community. Although missions of organizations may differ, services may include, but are not limited to:
 

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Latest treatment and research information
  • Lists of specialists or specialty centers
  • Financial aid and travel resources
Please note: GARD provides the names of patient organizations for informational purposes only and not as an endorsement of their services. Please contact the organization directly if you have questions about the information or resources they provide.

Categories

What do disease-specific organizations do?

Some organizations build a community of patients and families impacted by a specific disease or group of related diseases. These organizations usually have more disease-specific information and services, including helping new members find others who have the same disease.

What do organizations that focus on a medical condition do?

Some organizations build a community of patients and families impacted by a medical condition, like epilepsy, or related conditions, like heart problems, that may also be a symptom in other diseases. These organizations usually have information and services focused more on the medical condition(s), but may also have information about associated diseases.

What do umbrella organizations do?

Rare disease umbrella organizations focus on improving the lives of all those impacted by rare diseases through education and advocacy efforts. Umbrella organizations provide a range of services for patients, families, and disease-specific organizations.

Patient Organizations

4 Organizations

Organization Name

Organization Type

Service

Country

Language

EveryLife Foundation for Rare Diseases
https://everylifefoundation.org/
Umbrella

Glaucoma 3 Primary Infantile B

Service

Information

Country

United States

Language

English

Spanish

Umbrella

Glaucoma 3 Primary Infantile B

Service

Information

Country

United States

Language

English

Umbrella

Glaucoma 3 Primary Infantile B

Service

Information

Country

United States

Language

English

National Organization for Rare Disorders
https://rarediseases.org/
Umbrella

Glaucoma 3 Primary Infantile B

Service

Information

Research

Country

United States

Language

English

Spanish

4 Organizations

Research

Why is Research Important for Rare Diseases?

Research increases what we know about rare diseases so that people can get a diagnosis more quickly and can know what to expect. Research also helps doctors better understand how well a treatment works and can lead to new treatment discoveries. It may even help improve diagnosis and treatment of more common diseases.

How do you find the right clinical study?

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

Current clinical studies can be found by using ClincalTrials.gov. Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria.

How do you find the right clinical study?

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

Current clinical studies can be found by using ClincalTrials.gov. Doctors, other trusted medical professionals, and patient organizations may also be aware of studies. Researchers from participating institutions use the database to search for patients or healthy volunteers who meet their study criteria.

Last Updated: Nov. 8, 2021