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  • 2020
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  • Richard Weleber
2020

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

Wright, G. A., Georgiou, M., Robson, A. G., Ali, N., Kalhoro, A., Holthaus, SM. K., Pontikos, N., Oluonye, N., de Carvalho, E. R., Neveu, M. M., Weleber, R. G. & Michaelides, M., Apr 2020, In : Ophthalmology Retina. 4, 4, p. 433-445 13 p.

Research output: Contribution to journalArticle

Open Access

New Technologies for Outcome Measures in Glaucoma: Review by the European Vision Institute Special Interest Focus Group

Traber, G. L., Della Volpe-Waizel, M., Maloca, P., Schmidt-Erfurth, U., Rubin, G., Roska, B., Cordeiro, M. F., Otto, T., Weleber, R., Lesmes, L. A., Arleo, A. & Scholl, H. P. N., Mar 1 2020, In : Ophthalmic Research. 63, 2, p. 88-96 9 p.

Research output: Contribution to journalReview article

2019

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

Shurygina, M. F., Parker, M. A., Schlechter, C. L., Chen, R., Li, Y., Weleber, R. G., Yang, P. & Pennesi, M. E., Dec 7 2019, In : BMC ophthalmology. 19, 1, 246.

Research output: Contribution to journalArticle

Open Access

Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography

Alabduljalil, T., Patel, R. C., Alqahtani, A. A., Gao, S. S., Gale, M. J., Zhang, M., Jia, Y., Huang, D., Chiang, P. W., Chen, R., Wang, J., Weleber, R. G., Pennesi, M. E. & Yang, P., Jun 2019, In : American journal of ophthalmology. 202, p. 79-90 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

New Technologies for Outcome Measures in Retinal Disease: Review from the European Vision Institute Special Interest Focus Group

Della Volpe-Waizel, M., Traber, G. L., Maloca, P., Zinkernagel, M., Schmidt-Erfurth, U., Rubin, G., Roska, B., Otto, T., Weleber, R. & Scholl, H. P. N., Jan 1 2019, (Accepted/In press) In : Ophthalmic Research.

Research output: Contribution to journalReview article

Open Access
1 Scopus citations

Projection-Resolved Optical Coherence Tomographic Angiography of Retinal Plexuses in Retinitis Pigmentosa

Hagag, A. M., Wang, J., Lu, K., Harman, G., Weleber, R. G., Huang, D., Yang, P., Pennesi, M. E. & Jia, Y., Aug 2019, In : American journal of ophthalmology. 204, p. 70-79 10 p.

Research output: Contribution to journalArticle

4 Scopus citations

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

Chung, D. C., Bertelsen, M., Lorenz, B., Pennesi, M., Leroy, B. P., Hamel, C. P., Pierce, E., Sallum, J., Larsen, M., Stieger, K., Preising, M., Weleber, R., Yang, P., Place, E., Liu, E., Schaefer, G., DiStefano-Pappas, J., Elci, O. U., McCague, S., Wellman, J. A. & 2 others, High, K. A. & Reape, K. Z., Mar 1 2019, In : American Journal of Ophthalmology. 199, p. 58-70 13 p.

Research output: Contribution to journalArticle

10 Scopus citations
2018

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

Burkard, M., Kohl, S., Krätzig, T., Tanimoto, N., Brennenstuhl, C., Bausch, A. E., Junger, K., Reuter, P., Sothilingam, V., Beck, S. C., Huber, G., Ding, X. Q., Mayer, A. K., Baumann, B., Weisschuh, N., Zobor, D., Hahn, G. A., Kellner, U., Venturelli, S., Becirovic, E. & 14 others, Issa, P. C., Koenekoop, R. K., Rudolph, G., Heckenlively, J., Sieving, P., Weleber, R. G., Hamel, C., Zong, X., Biel, M., Lukowski, R., Seeliger, M. W., Michalakis, S., Wissinger, B. & Ruth, P., Dec 3 2018, In : Journal of Clinical Investigation. 128, 12, p. 5663-5675 13 p.

Research output: Contribution to journalArticle

A cross-sectional and longitudinal study of retinal sensitivity in RPE65-associated leber congenital amaurosis

Kumaran, N., Rubin, G. S., Kalitzeos, A., Fujinami, K., Bainbridge, J. W. B., Weleber, R. & Michaelides, M., Jul 1 2018, In : Investigative Ophthalmology and Visual Science. 59, 8, p. 3330-3339 10 p.

Research output: Contribution to journalArticle

2 Scopus citations

Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning

Wang, Z., Camino, A., Hagag, A. M., Wang, J., Weleber, R., Yang, P., Pennesi, M., Huang, D., Li, D. & Yali, J., Jan 1 2018, (Accepted/In press) In : Journal of Biophotonics.

Research output: Contribution to journalArticle

6 Scopus citations

Characterization of visual function, interocular variability and progression using static perimetry-derived metrics in RPGR-associated retinopathy

Tee, J. J. L., Yang, Y., Kalitzeos, A., Webster, A., Bainbridge, J., Weleber, R. G. & Michaelides, M., May 2018, In : Investigative Ophthalmology and Visual Science. 59, 6, p. 2422-2436 15 p.

Research output: Contribution to journalArticle

6 Scopus citations

Cross-sectional and longitudinal assessment of retinal sensitivity in patients with childhood-onset stargardt disease

Tanna, P., Georgiou, M., Aboshiha, J., Strauss, R. W., Kumaran, N., Kalitzeos, A., Weleber, R. G. & Michaelides, M., Nov 2018, In : Translational Vision Science and Technology. 7, 6, 10.

Research output: Contribution to journalArticle

2 Scopus citations

Effect of oral valproic acid vs placebo for vision loss in patients with autosomal dominant retinitis pigmentosa a randomized phase 2 multicenter placebo-controlled

Birch, D. G., Bernstein, P. S., Iannacone, A., Pennesi, M., Lam, B. L., Heckenlively, J., Csaky, K., Hartnett, M. E., Winthrop, K., Jayasundera, T., Hughbanks-Wheaton, D. K., Warner, J., Yang, P., Fish, G. E., Teske, M. P., Sklaver, N. L., Erker, L., Chegarnov, E., Smith, T., Wahle, A. & 8 others, VanVeldhuisen, P. C., McCormack, J., Lindblad, R., Bramer, S., Rose, S., Zilliox, P., Francis, P. J. & Weleber, R., Aug 1 2018, In : JAMA Ophthalmology. 136, 8, p. 849-856 8 p.

Research output: Contribution to journalArticle

9 Scopus citations

Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2

Lockhart, C. M., Smith, T., Yang, P., Naidu, M., Rettie, A. E., Nath, A., Weleber, R. & Kelly, E. J., Feb 1 2018, In : The British journal of ophthalmology. 102, 2, p. 187-194 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

Prospective evaluation of patients with X-linked retinoschisis during 18 months

XLRS-001 Study Group, Dec 2018, In : Investigative Ophthalmology and Visual Science. 59, 15, p. 5941-5956 16 p.

Research output: Contribution to journalArticle

4 Scopus citations

Results at 5 Years after Gene Therapy for RPE65-Deficient Retinal Dystrophy

Pennesi, M. E., Weleber, R. G., Yang, P., Whitebirch, C., Thean, B., Flotte, T. R., Humphries, M., Chegarnov, E., Beasley, K. N., Stout, J. T. & Chulay, J. D., Dec 2018, In : Human Gene Therapy. 29, 12, p. 1428-1437 10 p.

Research output: Contribution to journalArticle

13 Scopus citations

Scleral pits in choroideremia implications for retinal gene therapy

Al-Qahtani, A. A., Ba-Ali, S., Alabduljalil, T., Coyner, A. S., Patel, R. C., Weleber, R. G., Girach, A., Christensen, S. K., Larsen, M., Pennesi, M. E. & Yang, P., Jan 1 2018, In : Retina. 38, 9, p. 1725-1730 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration

Mehat, M. S., Sundaram, V., Ripamonti, C., Robson, A. G., Smith, A. J., Borooah, S., Robinson, M., Rosenthal, A. N., Innes, W., Weleber, R. G., Lee, R. W. J., Crossland, M., Rubin, G. S., Dhillon, B., Steel, D. H. W., Anglade, E., Lanza, R. P., Ali, R. R., Michaelides, M. & Bainbridge, J. W. B., Nov 2018, In : Ophthalmology. 125, 11, p. 1765-1775 11 p.

Research output: Contribution to journalArticle

26 Scopus citations
2017

Choriocapillaris evaluation in choroideremia using optical coherence tomography angiography

Gao, S. S., Patel, R. C., Jain, N., Zhang, M., Weleber, R., Huang, D., Pennesi, M. & Yali, J., Jan 1 2017, In : Biomedical Optics Express. 8, 1, p. 48-56 9 p., #276323.

Research output: Contribution to journalArticle

11 Scopus citations

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

Biswas, P., Duncan, J. L., Maranhao, B., Kozak, I., Branham, K., Gabriel, L., Lin, J. H., Barteselli, G., Navani, M., Suk, J., Parke, M., Schlechter, C., Weleber, R. G., Heckenlively, J. R., Dagnelie, G., Lee, P., Amerriazuddin, S. & Ayyagari, R., Apr 2017, In : Physiological genomics. 49, 4, p. 216-229 14 p.

Research output: Contribution to journalArticle

7 Scopus citations

Leber congenital amaurosis/early-onset severe retinal dystrophy: Clinical features, molecular genetics and therapeutic interventions

Kumaran, N., Moore, A. T., Weleber, R. & Michaelides, M., Sep 1 2017, In : British Journal of Ophthalmology. 101, 9, p. 1147-1154 8 p.

Research output: Contribution to journalReview article

60 Scopus citations

Repeatability and longitudinal assessment of foveal cone structure in CNGB3 -Associated achromatopsia

Langlo, C. S., Erker, L. R., Parker, M., Patterson, E. J., Higgins, B. P., Summerfelt, P., Razeen, M. M., Collison, F. T., Fishman, G. A., Kay, C. N., Zhang, J., Weleber, R. G., Yang, P., Pennesi, M. E., Lam, B. L., Chulay, J. D., Dubra, A., Hauswirth, W. W., Wilson, D. J. & Carroll, J., Oct 1 2017, In : Retina. 37, 10, p. 1956-1966 11 p.

Research output: Contribution to journalArticle

22 Scopus citations
2016

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases

Boese, E. A., Jain, N., Yali, J., Schlechter, C. L., Harding, C., Gao, S. S., Patel, R. C., Huang, D., Weleber, R., Gillingham, M. & Pennesi, M., Oct 1 2016, In : Ophthalmology. 123, 10, p. 2183-2195 13 p.

Research output: Contribution to journalArticle

9 Scopus citations

Comparison of nonparametric methods for static visual field interpolation

Smith, T., Smith, N. & Weleber, R., Apr 22 2016, (Accepted/In press) In : Medical and Biological Engineering and Computing. p. 1-10 10 p.

Research output: Contribution to journalArticle

3 Scopus citations

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Buena-Atienza, E., Rüther, K., Baumann, B., Bergholz, R., Birch, D., De Baere, E., Dollfus, H., Greally, M. T., Gustavsson, P., Hamel, C. P., Heckenlively, J. R., Leroy, B. P., Plomp, A. S., Pott, J. W. R., Rose, K., Rosenberg, T., Stark, Z., Verheij, J. B. G. M., Weleber, R., Zobor, D. & 3 others, Weisschuh, N., Kohl, S. & Wissinger, B., Jun 24 2016, In : Scientific Reports. 6, 28253.

Research output: Contribution to journalArticle

7 Scopus citations

Dysregulation of Retinal Transcription Factor PRDM13 and North Carolina Macular Dystrophy

Weleber, R., Jan 1 2016, In : Ophthalmology. 123, 1, p. 2-4 3 p.

Research output: Contribution to journalArticle

2 Scopus citations

Insights into autosomal dominant stargardt-like macular dystrophy through multimodality diagnostic imaging

Palejwala, N., Gale, M. J., Clark, R. F., Schlechter, C., Weleber, R. & Pennesi, M., 2016, In : Retina. 36, 1, p. 119-130 12 p.

Research output: Contribution to journalArticle

11 Scopus citations

Long-term Follow-up of Patients With Retinitis Pigmentosa Receiving Intraocular Ciliary Neurotrophic Factor Implants

Birch, D. G., Bennett, L. D., Duncan, J. L., Weleber, R. & Pennesi, M., Oct 1 2016, In : American Journal of Ophthalmology. 170, p. 10-14 5 p.

Research output: Contribution to journalArticle

37 Scopus citations

Molecular and clinical findings in patients with knobloch syndrome

Hull, S., Arno, G., Ku, C. A., Ge, Z., Waseem, N., Chandra, A., Webster, A. R., Robson, A. G., Michaelides, M., Weleber, R., Davagnanam, I., Chen, R., Holder, G. E., Pennesi, M. & Moore, A. T., Jul 1 2016, In : JAMA Ophthalmology. 134, 7, p. 753-762 10 p.

Research output: Contribution to journalArticle

13 Scopus citations

Mutation detection in patients with retinal dystrophies using targeted next generation sequencing

Weisschuh, N., Mayer, A. K., Strom, T. M., Kohl, S., Glöckle, N., Schubach, M., Andreasson, S., Bernd, A., Birch, D. G., Hamel, C. P., Heckenlively, J. R., Jacobson, S. G., Kamme, C., Kellner, U., Kunstmann, E., Maffei, P., Reiff, C. M., Rohrschneider, K., Rosenberg, T., Rudolph, G. & 4 others, Vámos, R., Varsányi, B., Weleber, R. G. & Wissinger, B., Jan 1 2016, In : PloS one. 11, 1, e0145951.

Research output: Contribution to journalArticle

55 Scopus citations

Normal values for the full visual field, corrected for ageand reaction time, using semiautomated kinetic testing on the octopus 900 perimeter

Grobbel, J., Dietzsch, J., Johnson, C. A., Vonthein, R., Stingl, K., Weleber, R. G. & Schiefer, U., Mar 2016, In : Translational Vision Science and Technology. 5, 2, 5.

Research output: Contribution to journalArticle

15 Scopus citations

Optical coherence tomography angiography in choroideremia: Correlating choriocapillaris loss with overlying degeneration

Jain, N., Yali, J., Gao, S. S., Zhang, X., Weleber, R., Huang, D. & Pennesi, M., Jun 1 2016, In : JAMA Ophthalmology. 134, 6, p. 697-702 6 p.

Research output: Contribution to journalArticle

30 Scopus citations

Optical coherence tomography angiography of choroidal neovascularization in four inherited retinal dystrophies

Patel, R. C., Gao, S. S., Zhang, M., Alabduljalil, T., Al-Qahtani, A., Weleber, R. G., Yang, P., Jia, Y., Huang, D. & Pennesi, M. E., Dec 1 2016, In : Retina. 36, 12, p. 2339-2347 9 p.

Research output: Contribution to journalArticle

18 Scopus citations

Quantification of ellipsoid zone changes in retinitis pigmentosa using en face spectral domain-optical coherence tomography

The Trial of Oral Valproic Acid for Retinitis Pigmentosa Group, Jun 2016, In : JAMA ophthalmology. 134, 6, p. 628-635 8 p.

Research output: Contribution to journalArticle

29 Scopus citations

Quantification of the Visual Field Loss in Retinitis Pigmentosa Using Semi-Automated Kinetic Perimetry

Nowomiejska, K., Brzozowska, A., Koss, M. J., Weleber, R. G., Schiefer, U., Rejdak, K., Juenemann, A. G., Maciejewski, R. & Rejdak, R., Jul 2 2016, In : Current Eye Research. 41, 7, p. 993-998 6 p.

Research output: Contribution to journalArticle

4 Scopus citations

Residual foveal cone structure in CNGB3-associated achromatopsia

ACHM-001 Study Group, Aug 2016, In : Investigative Ophthalmology and Visual Science. 57, 10, p. 3984-3995 12 p.

Research output: Contribution to journalArticle

36 Scopus citations

Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy

Weleber, R. G., Pennesi, M. E., Wilson, D. J., Kaushal, S., Erker, L. R., Jensen, L., McBride, M. T., Flotte, T. R., Humphries, M., Calcedo, R., Hauswirth, W. W., Chulay, J. D. & Stout, J. T., Jul 1 2016, In : Ophthalmology. 123, 7, p. 1606-1620 15 p.

Research output: Contribution to journalArticle

91 Scopus citations

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia

Ku, C. A., Ng, J. K., Karr, D., Reznick, L., Harding, C., Weleber, R. & Pennesi, M., Mar 16 2016, (Accepted/In press) In : Ophthalmic Genetics. p. 1-11 11 p.

Research output: Contribution to journalArticle

4 Scopus citations

Structure-Function Modeling of Optical Coherence Tomography and Standard Automated Perimetry in the Retina of Patients with Autosomal Dominant Retinitis Pigmentosa

EZ Working Group & VPA Clinical Trial Study Group, Feb 1 2016, In : PloS one. 11, 2, e0148022.

Research output: Contribution to journalArticle

24 Scopus citations

Test-retest variability of functional and structural parameters in patients with stargardt disease participating in the SAR422459 gene therapy trial

Parker, M. A., Choi, D., Erker, L. R., Pennesi, M. E., Yang, P., Chegarnov, E. N., Steinkamp, P. N., Schlechter, C. L., Dhaenens, C. M., Mohand-Said, S., Audo, I., Sahel, J., Weleber, R. G. & Wilson, D. J., Sep 2016, In : Translational Vision Science and Technology. 5, 5, 10.

Research output: Contribution to journalArticle

21 Scopus citations

The effect of multispot laser panretinal photocoagulation on retinal sensitivity and driving eligibility in patients with diabetic retinopathy

Subash, M., Comyn, O., Samy, A., Qatarneh, D., Antonakis, S., Mehat, M., Tee, J., Mansour, T., Xing, W., Bunce, C., Viswanathan, A., Rubin, G., Weleber, R., Peto, T., Wickham, L. & Michaelides, M., Jun 2016, In : JAMA ophthalmology. 134, 6, p. 666-672 7 p.

Research output: Contribution to journalArticle

24 Scopus citations
8 Scopus citations