Jacque Duncan, MD

Professor of Clinical Opthalmology
M_Ophthalmology
[email protected]
+1 415 514-4241

Retinitis pigmentosa (RP) affects about 1 in 3,500 people worldwide. Age-related macular degeneration (AMD) affects as many as 1 in 4 people by the age of 75 and is the leading cause of blindness in people over age 50 in the United States. Both RP and AMD have a hereditary basis, and currently, there is no cure for either of these types of hereditary retinal degeneration. My clinical specialty is diagnosing and caring for patients with these diseases, using modalities from fluorescein angiography, to optical coherence tomography (OCT), to electroretinography (ERG).

In both RP and AMD, loss of vision is a result of photoreceptor cell degeneration and death. Treatments that can prevent photoreceptor degeneration in experimental models of retinal degenerations may have utility in preventing degeneration in both RP and AMD. I am interested in investigating novel treatments to preserve retinal function in patients with RP, cone rod dystrophy, Stargardt disease, Best disease and AMD.

Patients with rod specific defects undergo degeneration not only of rods, but also of cone photoreceptors. Because cones are responsible for fine visual acuity and color perception, their degeneration is particularly disabling for patients. I am interested in studying the relationship between cone photoreceptor survival and rod-specific gene defects in hereditary retinal degenerations, with the goal of preserving visual function mediated by both rods and cones.

A major challenge in the study of retinal degenerations lies in the fact that the cells affected by these diseases, the photoreceptors and retinal pigment epithelial (RPE) cells, are not visible in the eyes of living people. My collaborator Dr. Austin Roorda at the UC Berkeley School of Optometry has developed a novel device, the adaptive optics scanning laser ophthalmoscope (AOSLO), with the ability to image individual cone photoreceptors in the central retina of living eyes. We have studied cones in patients with RP, cone-rod dystrophy and other types of retinal degeneration to better understand why vision is lost in these diseases. See Dr. Roorda’s laboratory webpage for additional details about this research.

The UCSF Retinal Degenerations Clinic participated in 3 multi-center clinical trials for patients with inherited retinal degenerations. Two Phase II/III clinical trials evaluated the effect that a growth factor called ciliary neurotrophic factor (CNTF) has on retinal function in patients with early and late stages of RP. A Phase I study evaluated the safety and efficacy of a new generation epiretinal prosthetic device to stimulate visual perception in patients with end-stage RP. These clinical trials are among the first to study possible treatments for patients with these blinding diseases.

Publications

Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

NPJ genomic medicine

Schmidt RE, Pohodich AE, Birch D, Jones K, Lam BL, Jung EH, Jain N, Georgiou M, Mahroo OA, Webster AR, Michaelides M, Bakall B, Iannaccone A, Vincent A, Parameswarappa DC, Heon E, Scholl HPN, Janeschitz-Kriegl L, Traboulsi EI, Zein W, Brooks BP, Cukras C, Hufnagel R, Aleman TS, Sylla MM, Tsang SH, Alabek M, Sahel J, Gorin MB, van Genderen MM, Stingl K, Reith M, Kohl S, Amaral RAS, Sallum JMF, Vincent AL, Hull S, Duncan JL, Hanson JVM, Tedeus M, Maggi J, Graf U, Koller S, Berger W, Gerth-Kahlert C, Marra M, Everett LA, Yang P, Pennesi ME

Corrigendum to "Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity" [Am J Ophthalmol 2020;219:87-100].

American journal of ophthalmology

Duncan JL, Liang W, Maguire MG, Audo I, Ayala AR, Birch DG, Carroll J, Cheetham JK, Esposti SD, Durham TA, Erker L, Farsiu S, Ferris FL, Heon E, Hufnagel RB, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Sahel JA, Foundation Fighting Blindness Consortium Investigator Group

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll.

Investigative ophthalmology & visual science

Branham K, Samarakoon L, Audo I, Ayala AR, Cheetham JK, Daiger SP, Dhooge P, Duncan JL, Durham TA, Fahim AT, Huckfeldt RM, Hufnagel RB, Kohl S, Maldonado RS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Sallum JMF, Singh MS, Sharon D, Stepien K, Jones K, Weng CY, Foundation Fighting Blindness Clinical Consortium Investigator Group

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

medRxiv : the preprint server for health sciences

Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millán JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, Oldak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Rasquin FA, Rice GI, Roberts L, Rodríguez-Hidalgo M, Ruiz-Eddera J, Sabir AH, Sajiki AF, Sánchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stingl K, Suga A, Sullivan LS, Szabó V, Szaflik JP, Taurina G, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, van Aerschot J, van den Born LI, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Cremers FPM, Lee W, Ellingford JM, Stanek D, Rivolta C, Roosing S

Retinal Disorders.

Cold Spring Harbor perspectives in medicine

Sahel JA, Banin E, Bennett J, Duncan JL, Roska B

Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study.

Translational vision science & technology

Maguire MG, Birch DG, Duncan JL, Ayala AR, Ayton LN, Cheetham JK, Cheng P, Durham TA, Ferris FL, Hoyng CB, Huckfeldt RM, Jaffe GJ, Kay C, Lad EM, Leroy BP, Liang W, McDaniel LS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Samarakoon L, REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Brain : a journal of neurology

Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB

Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.

Investigative ophthalmology & visual science

Parekh B, Duncan JL, Samarakoon L, Melia M, Abalem MF, Andrews CA, Audo I, Ayala AR, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Huckfeldt RM, Lacy GD, Malbin B, Michaelides M, Musch DC, Peck-Dimit N, Stingl K, Weng CY, Zmejkoski AZ, Jayasundera KT, Foundation Fighting Blindness Clinical Consortium Investigator Group

Functional Vision in Patients With Biallelic USH2A Variants.

American journal of ophthalmology

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY, Foundation Fighting Blindness Consortium Investigator Group

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.

bioRxiv : the preprint server for biology

Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

PLoS genetics

Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.

Translational vision science & technology

Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JWB, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Dalkara D, Duncan JL, Fahim AT, Flannery JG, Gattegna R, Heckenlively JR, Heon E, Jayasundera KT, Khan NW, Klassen H, Leroy BP, Molday RS, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Reh TA, Sahel JA, Sharon D, Sieving PA, Strettoi E, Yang P, Zacks DN, Monaciano Consortium

Long-Term Results from an Epiretinal Prosthesis to Restore Sight to the Blind.

Ophthalmology

Ho AC, Humayun MS, Dorn JD, da Cruz L, Dagnelie G, Handa J, Barale PO, Sahel JA, Stanga PE, Hafezi F, Safran AB, Salzmann J, Santos A, Birch D, Spencer R, Cideciyan AV, de Juan E, Duncan JL, Eliott D, Fawzi A, Olmos de Koo LC, Brown GC, Haller JA, Regillo CD, Del Priore LV, Arditi A, Geruschat DR, Greenberg RJ, Argus II Study Group

Preface.

International Ophthalmology Clinics

Jacque L. Duncan, James Palmer