Retinal Imaging in Patients With Inherited Retinal Degenerations

Sponsor

University of California, San Francisco (Other)

Overall Status

Recruiting

CT.gov ID

NCT00254605

Collaborator

University of California, Berkeley (Other)

400

Enrollment

Location

228

Duration (Months)

1.8

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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).

Condition or Disease	Intervention/Treatment	Phase
Retinitis Pigmentosa

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 Design

Study Type:

Observational

Anticipated Enrollment :

400 participants

Observational Model:

Case-Control

Time Perspective:

Prospective

Official Title:

High Resolution Retinal Imaging in Patients With Inherited Retinal Degenerations

Study Start Date :

Nov 1, 2005

Anticipated Primary Completion Date :

Oct 1, 2023

Anticipated Study Completion Date :

Nov 1, 2024

Outcome Measures

Primary Outcome Measures

Cone spacing [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.

Secondary Outcome Measures

Visual acuity [24 months]
Visual acuity will be measured every 6 months for 30 months with the primary outcome measure at 24 months.

Eligibility Criteria

Criteria

Ages Eligible for Study:

13 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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 UC Berkeley.
Subjects are financially responsible for their travel to the San Francisco area if they are not San Francisco residents.