Retinal Imaging in Patients With Inherited Retinal Degenerations

NCT ID: NCT00254605

Last Updated: 2025-05-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

400 participants

Study Classification

OBSERVATIONAL

Study Start Date

2005-11-01

Study Completion Date

2028-11-30

Brief Summary

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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).

Detailed Description

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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.

Conditions

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Retinitis Pigmentosa

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

13 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University of California, Berkeley

OTHER

Sponsor Role collaborator

University of California, San Francisco

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Jacque L. Duncan, M.D.

Role: PRINCIPAL_INVESTIGATOR

University of California, San Francisco

Locations

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Department of Ophthalmology Retinal Degenerations Clinic, UCSF

San Francisco, California, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Jacque L. Duncan, M.D.

Role: CONTACT

415-514-4241

Facility Contacts

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Jacque Duncan, MD

Role: primary

415-514-4241

References

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Yoon MK, Roorda A, Zhang Y, Nakanishi C, Wong LJ, Zhang Q, Gillum L, Green A, Duncan JL. Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1838-47. doi: 10.1167/iovs.08-2029. Epub 2008 Nov 7.

Reference Type RESULT
PMID: 18997096 (View on PubMed)

Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, Swaroop A, Roorda A. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci. 2007 Jul;48(7):3283-91. doi: 10.1167/iovs.06-1422.

Reference Type RESULT
PMID: 17591900 (View on PubMed)

Roorda A, Zhang Y, Duncan JL. High-resolution in vivo imaging of the RPE mosaic in eyes with retinal disease. Invest Ophthalmol Vis Sci. 2007 May;48(5):2297-303. doi: 10.1167/iovs.06-1450.

Reference Type RESULT
PMID: 17460294 (View on PubMed)

Zayit-Soudry S, Sippl-Swezey N, Porco TC, Lynch SK, Syed R, Ratnam K, Menghini M, Roorda AJ, Duncan JL. Repeatability of Cone Spacing Measures in Eyes With Inherited Retinal Degenerations. Invest Ophthalmol Vis Sci. 2015 Sep 1;56(10):6179-89. doi: 10.1167/iovs.15-17010.

Reference Type DERIVED
PMID: 26416092 (View on PubMed)

Wang Q, Tuten WS, Lujan BJ, Holland J, Bernstein PS, Schwartz SD, Duncan JL, Roorda A. Adaptive optics microperimetry and OCT images show preserved function and recovery of cone visibility in macular telangiectasia type 2 retinal lesions. Invest Ophthalmol Vis Sci. 2015 Jan 13;56(2):778-86. doi: 10.1167/iovs.14-15576.

Reference Type DERIVED
PMID: 25587056 (View on PubMed)

Menghini M, Lujan BJ, Zayit-Soudry S, Syed R, Porco TC, Bayabo K, Carroll J, Roorda A, Duncan JL. Correlation of outer nuclear layer thickness with cone density values in patients with retinitis pigmentosa and healthy subjects. Invest Ophthalmol Vis Sci. 2014 Dec 16;56(1):372-81. doi: 10.1167/iovs.14-15521.

Reference Type DERIVED
PMID: 25515570 (View on PubMed)

Zayit-Soudry S, Duncan JL, Syed R, Menghini M, Roorda AJ. Cone structure imaged with adaptive optics scanning laser ophthalmoscopy in eyes with nonneovascular age-related macular degeneration. Invest Ophthalmol Vis Sci. 2013 Nov 15;54(12):7498-509. doi: 10.1167/iovs.13-12433.

Reference Type DERIVED
PMID: 24135755 (View on PubMed)

Ratnam K, Carroll J, Porco TC, Duncan JL, Roorda A. Relationship between foveal cone structure and clinical measures of visual function in patients with inherited retinal degenerations. Invest Ophthalmol Vis Sci. 2013 Aug 28;54(8):5836-47. doi: 10.1167/iovs.13-12557.

Reference Type DERIVED
PMID: 23908179 (View on PubMed)

Syed R, Sundquist SM, Ratnam K, Zayit-Soudry S, Zhang Y, Crawford JB, MacDonald IM, Godara P, Rha J, Carroll J, Roorda A, Stepien KE, Duncan JL. High-resolution images of retinal structure in patients with choroideremia. Invest Ophthalmol Vis Sci. 2013 Feb 1;54(2):950-61. doi: 10.1167/iovs.12-10707.

Reference Type DERIVED
PMID: 23299470 (View on PubMed)

Ratnam K, Vastinsalo H, Roorda A, Sankila EM, Duncan JL. Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene. JAMA Ophthalmol. 2013 Jan;131(1):67-74. doi: 10.1001/2013.jamaophthalmol.2.

Reference Type DERIVED
PMID: 22964989 (View on PubMed)

Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A. Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. Invest Ophthalmol Vis Sci. 2011 Dec 20;52(13):9614-23. doi: 10.1167/iovs.11-8600.

Reference Type DERIVED
PMID: 22110067 (View on PubMed)

Mkrtchyan M, Lujan BJ, Merino D, Thirkill CE, Roorda A, Duncan JL. Outer retinal structure in patients with acute zonal occult outer retinopathy. Am J Ophthalmol. 2012 Apr;153(4):757-68, 768.e1. doi: 10.1016/j.ajo.2011.09.007. Epub 2011 Nov 20.

Reference Type DERIVED
PMID: 22105799 (View on PubMed)

Other Identifiers

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H12225-27221-0+1

Identifier Type: -

Identifier Source: org_study_id

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