Retinal Imaging in Patients With Inherited Retinal Degenerations

November 15, 2023 updated by: University of California, San Francisco

High Resolution Retinal Imaging in Patients With Inherited Retinal Degenerations

The purpose of this study is to determine whether the structure and function of the human retina can be studied with high resolution in patients with inherited retinal degenerations using the Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO).

Study Overview

Status

Recruiting

Detailed Description

Retinal degenerations are a group of inherited diseases that result in progressive death of the vision cells, or photoreceptors. Currently there is no treatment or cure for any of these diseases and they ultimately cause blindness in affected patients. We propose to investigate the structure and function of the human retina in patients with inherited retinal degenerations using the Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO). We will correlate the images of retinal structure produced by the AOSLO with Optical Coherence Tomography (OCT) images of the retina. In addition, we will study the vision of individual photoreceptors using the AOSLO to perform a novel technique, microperimetry, in patients with retinal degenerations. We will compare the results of microperimetry with standard measures of vision used in Ophthalmology clinics, including visual acuity, automated perimetry, fundus photography and multifocal electroretinography (mfERG).

The results of this work will provide insight into the mechanism of vision loss among patients with diverse retinal disorders. Specifically, we will study cone structure and function in patients with retinal degenerations with different etiologies: retinitis pigmentosa, a disease usually caused by rod-specific mutations; cone-rod dystrophy, which primarily affects cones rather than rods; and Best's disease, a disease caused by a defect in the retinal pigment epithelium (RPE). In addition, we will study the effect that lipofuscin, a byproduct of photoreceptor metabolism that accumulates in the RPE in diseases such as Stargardt's disease, Best's disease and age-related macular degeneration (AMD), has on cone structure and function, with the goal of understanding how these diseases cause blindness. Better understanding of the mechanisms of vision loss in patients with retinal degeneration should ultimately lead to treatments for these blinding conditions.

Study Type

Observational

Enrollment (Estimated)

400

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

    • California
      • San Francisco, California, United States, 94143
        • Recruiting
        • Department of Ophthalmology Retinal Degenerations Clinic, UCSF
        • Contact:
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

13 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Patients with inherited retinal degenerations, including retinitis pigmentosa, choroideremia, x-linked retinoschisis and Usher syndrome. We are also studying a small number of patients with age-related macular degeneration.

Description

Inclusion Criteria:

  • Subjects must speak and understand English
  • Subjects must have pupils that dilate to at least 6 millimeters diameter.
  • Subjects must be willing to travel to University of California (UC) Berkeley.
  • Subjects are financially responsible for their travel to the San Francisco area if they are not San Francisco residents.

Exclusion Criteria:

  • Cataract
  • Irregular corneal astigmatism (keratoconus)
  • Prior refractive surgery

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Cone spacing
Time Frame: 24 months
The current study will assess cone spacing twice at baseline and every 6 months for 30 months. The primary outcome will be measured at 24 months.
24 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Visual acuity
Time Frame: 24 months
Visual acuity will be measured every 6 months for 30 months with the primary outcome measure at 24 months.
24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Jacque L. Duncan, M.D., University of California, San Francisco

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 1, 2005

Primary Completion (Estimated)

October 1, 2028

Study Completion (Estimated)

November 1, 2028

Study Registration Dates

First Submitted

November 14, 2005

First Submitted That Met QC Criteria

November 14, 2005

First Posted (Estimated)

November 16, 2005

Study Record Updates

Last Update Posted (Estimated)

November 17, 2023

Last Update Submitted That Met QC Criteria

November 15, 2023

Last Verified

November 1, 2023

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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