Clinical Trial: Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases

Brief Summary:

This study will evaluate and treat children or adults with inherited or developmental eye conditions. It will allow specialists in pediatric ophthalmology, genetic ophthalmology, and ocular motility at the National Eye Institute (NEI) to learn more about the course of various pediatric, genetic, developmental, and eye movement diseases thorough long-term observation and treatment. It will also serve as the first step in determining the eligibility of patients who may wish to enroll in other NEI clinical research studies or undergo standard eye treatments.

Children with eye conditions, especially inherited or developmental conditions, and adults with eye disorders that began in childhood or that likely have a genetic or developmental component may be eligible for this study. Participants will undergo some or all of the following procedures:

• Medical history, including family history.
• Physical examination and possibly routine blood tests, x-rays tests, standard eye movement recordings, questionnaires, and specialized procedures when needed.
• Complete eye examination, including vision test, visual perception, eye pressure (if possible), dilation of the pupils to examine the back of the eye (lens, vitreous, and retina).
• Photographs of the eyes.
• Oculography (eye movement recordings) in patients for whom testing will aid in diagnosis. This test is done either with goggles placed over the eyes or with a contact lens placed on each eye. When the goggles or lenses are in place, the subject looks at a series of red targets on a computer screen.
• Electroretinography (ERG) in patients with suspected retinal degeneration. This is a tes
  

  Detailed Summary:

  The purpose of this protocol is to allow the pediatric ophthalmology, genetic ophthalmology, and ocular motility specialists at the National Eye Institute to gain additional knowledge of the course of various pediatric, genetic, developmental and ocular motility diseases. Heretofore, this spectrum of diseases will be referred to as pediatric ophthalmology diseases. We wish to evaluate the effects of standard treatments for these diseases, use non- or minimally-invasive technologies to understand the pathogenesis of these diseases, and to collect blood or other easily obtained biologic sample (e.g., urine, saliva, hair, cheek swab, or stool) for future laboratory studies on these diseases. The information gained from this protocol will also allow for the maintenance of populations of patients with specific pediatric eye diseases and strabismus that may be eligible for future protocols. In addition, by allowing for the care of patients with a spectrum of these diseases, the protocol will be valuable for the training of pediatric eye disease, ocular genetics, and ocular motility fellows. The pediatric, genetic, and eye movement specialists at the National Eye Institute will choose ophthalmology diseases based on the training and research needs of the NEI program. While the primary focus of this protocol is to study eye disease in children, adults who have a disease that began in childhood or who may have an inherited eye disease or are unaffected first-degree relatives may also be evaluated under this protocol.

  This protocol is not designed to test any new treatments. Any evaluation of treatments under this protocol will be based on the standard-of-care for each patient's disease. All alternatives for evaluation and care will be reviewed with each patient and the patient's family.

  Patients in this evaluation and treatment pro
  Sponsor: National Eye Institute (NEI)
  

  Current Primary Outcome:
  
  

  Original Primary Outcome:
  
  

  Current Secondary Outcome:
  
  

  Original Secondary Outcome:
  
  Information By: National Institutes of Health Clinical Center (CC)
  

  Dates:
  Date Received: January 16, 2004
  Date Started: January 14, 2004
  Date Completion: October 28, 2008
  Last Updated: January 24, 2017
  Last Verified: October 28, 2008