Retinitis PigmentosaNCT00254605
Retinal Imaging in Patients With Inherited Retinal Degenerations
An observational study of Retinitis Pigmentosa, run by University of California, San Francisco at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 13 years and olderHealthy volunteers can take part
- Conditions the study is for
- Retinitis Pigmentosa
- How many people
- 400 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Nov 2005to 1 Nov 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 13 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Cataract
- Irregular corneal astigmatism (keratoconus)
- Prior refractive surgery
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Department of Ophthalmology Retinal Degenerations Clinic, UCSF
San Francisco, California, 94143
Jacque Duncan, MD, 415-514-4241, jacque.duncan@ucsf.edu
About this study
Official title: 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).
Read the 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.
- Conditions
- Retinitis Pigmentosa
- Keywords
- imaging, adaptive optics scanning laser ophthalmoscope, optical coherence tomography, electroretinography
- Medical subject headings
- Retinitis Pigmentosa
What is being measured
The primary outcome is the main question the study is designed to answer.
Cone spacing
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.
Measured: 24 months
Secondary outcomes (1)
Visual acuity
Visual acuity will be measured every 6 months for 30 months with the primary outcome measure at 24 months.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Nov 2005 (estimated)
- Study start1 Nov 2005
- Primary completion1 Oct 2028 (estimated)
- Study completion1 Nov 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (12)Papers the sponsor has linked to this study.
- Other trials for Retinitis PigmentosaStudies of the same condition, open and under way.
- More trials run by University of California, San FranciscoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of California, San Francisco
- Sponsor type
- University, hospital or other
- Collaborators
- University of California, Berkeley
- Responsible party
- Sponsor
- Investigators
- Jacque L. Duncan, M.D., Principal investigator, University of California, San Francisco
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00254605
- Sponsor's protocol ID
- H12225-27221-0+1
- Status last verified
- Jun 2026
- First submitted
- 14 Nov 2005
- Last updated
- 5 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
Publications
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.
PubMed 18997096Duncan 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.
PubMed 17591900Roorda 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.
PubMed 17460294Zayit-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.
PubMed 26416092Wang 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.
PubMed 25587056Menghini 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.
PubMed 25515570Zayit-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.
PubMed 24135755Ratnam 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.
PubMed 23908179Syed 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.
PubMed 23299470Ratnam 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.
PubMed 22964989Duncan 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.
PubMed 22110067Mkrtchyan 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.
PubMed 22105799
Study at a glance
From the registry record, last updated by the sponsor on 5 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- High Resolution Retinal Imaging in Patients With Inherited Retinal Degenerations
- ClinicalTrials.gov ID
- NCT00254605
- Acronym / sponsor ID
- H12225-27221-0+1
- Conditions
- Retinitis Pigmentosa
- Keywords
- imaging, adaptive optics scanning laser ophthalmoscope, optical coherence tomography, electroretinography
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- University of California, San FranciscoUniversity, hospital or other
- Collaborators
- University of California, Berkeley
- Study start
- 1 Nov 2005 (actual)
- Primary completion
- 1 Oct 2028 (estimated)
- Study completion
- 1 Nov 2028 (estimated)
- First posted
- 16 Nov 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Ages
- 13 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (3 listed)
- Cataract
- Irregular corneal astigmatism (keratoconus)
- Prior refractive surgery
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Visual acuity
Time frame: 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jun 2026.
- Results publication: PubMed 18997096Yoon 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.
- Results publication: PubMed 17591900Duncan 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.
- Results publication: PubMed 17460294Roorda 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.
- Derived from this study: PubMed 26416092Zayit-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.
- Derived from this study: PubMed 25587056Wang 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.
- Derived from this study: PubMed 25515570Menghini 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.
- Derived from this study: PubMed 24135755Zayit-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.
- Derived from this study: PubMed 23908179Ratnam 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.
- Derived from this study: PubMed 23299470Syed 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.
- Derived from this study: PubMed 22964989Ratnam 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.
- Derived from this study: PubMed 22110067Duncan 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.
- Derived from this study: PubMed 22105799Mkrtchyan 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jacque L. Duncan, M.D. principal investigator
University of California, San Francisco
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinitis Pigmentosa, run by University of California, San Francisco at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jacque L. Duncan, M.D. (415-514-4241, jacque.duncan@ucsf.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cone spacing (time frame: 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00254605, which also lists 12 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Jun 2026.