Sieving, Paul Albert, M.D., Ph.D.
individual record
Senior Investigator
Positions:
- Senior Investigator, Section for Translational Research on Retinal and Macular Degeneration
overview
Paul Sieving received his M.D. from the University of Illinois in 1978 and trained in ophthalmology at that institution between 1978 and 1982. He earned a Ph.D. in bioengineering from the University of Illinois in 1981. He was a faculty member at the University of Michigan Medical School for 17 years and moved to NIH in 2001. He combines laboratory research with clinical patient studies of genetic retinal neurodegenerative diseases. He is a member of the Institute of Medicine and currently serves as director of the National Eye Institute.
selected publications
Articles1
- (2020). "There Are Hills and Valleys": Experiences of Parenting a Son With X-Linked Retinoschisis. AMERICAN JOURNAL OF OPHTHALMOLOGY. 212, 98-104.
Academic Articles218
- (2020). NEI-Supported Age-RelatedMacular Degeneration Research: Past, Present, and Future. Translational Vision Science & Technology. 9(7),
- (2020). "There Are Hills and Valleys": Experiences of Parenting a Son With X-Linked Retinoschisis. AMERICAN JOURNAL OF OPHTHALMOLOGY. 212, 98-104.
- (2020). Improved Ocular Tissue Models and Eye-On-A-Chip Technologies Will Facilitate Ophthalmic Drug Development. JOURNAL OF OCULAR PHARMACOLOGY AND THERAPEUTICS. 36(1), 25-29.
- (2019). AAVrh-10 transduces outer retinal cells in rodents and rabbits following intravitreal administration. GENE THERAPY. 26(9), 386-398.
- (2019). Cone ERG Changes During Light Adaptation in Two All-Cone Mutant Mice: Implications for Rod-Cone Pathway Interactions. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 60(10), 3680-3688.
- (2019). Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina. JOURNAL OF CELL BIOLOGY. 218(3), 1027-1038.
- (2019). Motivations and Decision Making Processes of Men With X-linked Retinoschisis Considering Participation in an Ocular Gene Therapy Trial. AMERICAN JOURNAL OF OPHTHALMOLOGY. 204, 90-96.
- (2019). The NIH Blueprint for Neuroscience Research Seeks Community Input on Future Neuroscience Investments. JOURNAL OF NEUROSCIENCE. 39(5), 774-775.
- (2019). Trans-ocular Electric Current In Vivo Enhances AAV-Mediated Retinal Gene Transduction after Intravitreal Vector Administration. Molecular Therapy-Methods & Clinical Development. 13, 77-85.
- (2018). Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. JOURNAL OF CLINICAL INVESTIGATION. 128(12), 5663-5675.
- (2018). Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(7), 2841-2847.
- (2018). IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis. HUMAN GENETICS. 137(6-7), 447-458.
- (2018). Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees. Advances in Experimental Medicine and Biology. 1074, 229-236.
- (2018). Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy. OPHTHALMIC GENETICS. 39(4), 477-486.
- (2018). Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genetics. 14(8),
- (2018). Neuroethics for the National Institutes of Health BRAIN Initiative. JOURNAL OF NEUROSCIENCE. 38(50), 10583-10585.
- (2018). Optical Coherence Tomography Minimum Intensity as an Objective Measure for the Detection of Hydroxychloroquine Toxicity. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(5), 1953-1963.
- (2018). Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery. MOLECULAR THERAPY. 26(9), 2282-2294.
- (2018). The National Eye Institute's Commitment to Career Development of Clinician-Scientists. JAMA Ophthalmology. 136(12), 1340-1341.
- (2018). Translational Retinal Research and Therapies. Translational Vision Science & Technology. 7(5),
- (2017). Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 58(4), 2218-2238.
- (2016). Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. PHYSIOLOGICAL GENOMICS. 48(12), 922-927.
- (2016). LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 36(12), 2348-2356.
- (2016). NADPH Oxidase Contributes to Photoreceptor Degeneration in Constitutively Active RAC1 Mice. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 57(6), 2864-2875.
- (2016). Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice. Molecular Therapy-Methods & Clinical Development. 3,
- (2016). Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 113(19), 5287-5292.
- (2016). Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 57(9), OCT277-OCT287.
- (2015). A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration. HUMAN MOLECULAR GENETICS. 24(14), 3956-3970.
- (2015). Biology and therapy of inherited retinal degenerative disease: insights from mouse models. Disease Models & Mechanisms. 8(2), 109-129.
- (2015). Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56(1), 107-114.
- (2015). Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis. Cold Spring Harbor Perspectives in Medicine. 5(8),
- (2015). Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3(-/-) Mouse Model of Achromatopsia. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 56(11), 6810-6822.
- (2015). Subjective and Objective Screening Tests for Hydroxychloroquine Toxicity. OPHTHALMOLOGY. 122(2), 356-366.
- (2015). Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer. JOURNAL OF CLINICAL INVESTIGATION. 125(7), 2891-2903.
- (2014). AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration. MOLECULAR VISION. 20, 1-14.
- (2014). CNGB3-Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 55(10), 6301-6308.
- (2014). Photoreceptor Pathology in the X-Linked Retinoschisis (XLRS) Mouse Results in Delayed Rod Maturation and Impaired Light Driven Transducin Translocation. Advances in Experimental Medicine and Biology. 801, 559-566.
- (2014). Preclinical Safety Evaluation of a Recombinant AAV8 Vector for X-Linked Retinoschisis After Intravitreal Administration in Rabbits. Human Gene Therapy Clinical Development. 25(4), 202-211.
- (2014). Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. OPHTHALMIC GENETICS. 35(1), 51-56.
- (2014). Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis. Translational Vision Science & Technology. 3(5),
- (2014). Transgenic Expression of Constitutively Active RAC1 Disrupts Mouse Rod Morphogenesis. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 55(4), 2659-2668.
- (2013). Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis. MOLECULAR VISION. 19, 2209-2216.
- (2013). Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. HUMAN MOLECULAR GENETICS. 22(23), 4756-4767.
- (2013). Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. MOLECULAR VISION. 19, 2407-2417.
- (2013). Phenotypic Conservation in Patients With X-Linked Retinitis Pigmentosa Caused by RPGR Mutations. JAMA Ophthalmology. 131(8), 1016-1025.
- (2013). The golden era of ocular disease gene discovery: Race to the finish. CLINICAL GENETICS. 84(2), 99-101.
- (2012). Centrifugal Expansion of Fundus Autofluorescence Patterns in Stargardt Disease Over Time. 130(2), 171-179.
- (2012). GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 53(3), 1353-1361.
- (2012). Loss of Retinoschisin (RS1) Cell Surface Protein in Maturing Mouse Rod Photoreceptors Elevates the Luminance Threshold for Light-Driven Translocation of Transducin But Not Arrestin. JOURNAL OF NEUROSCIENCE. 32(38), 13010-13021.
- (2012). Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 53(13), 8232-8237.
- (2012). NEI Audacious Goals Initiative to Catalyze Innovation. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 53(11), 7149-7150.
- (2011). Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families. 129(10), 1351-1357.
- (2011). Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families. BRITISH JOURNAL OF OPHTHALMOLOGY. 95(7), 1019-1024.
- (2011). Mutations in the beta-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. MOLECULAR VISION. 17(154), 1373-1380.
- (2011). X-Linked Retinoschisis: RS1 Mutation Severity and Age Affect the ERG Phenotype in a Cohort of 68 Affected Male Subjects. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 52(12), 9250-9256.
- (2010). A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness. AMERICAN JOURNAL OF HUMAN GENETICS. 87(4), 523-531.
- (2010). A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa. AMERICAN JOURNAL OF HUMAN GENETICS. 87(3), 400-409.
- (2010). A Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p. AMERICAN JOURNAL OF OPHTHALMOLOGY. 149(5), 861-866.
- (2010). A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa. AMERICAN JOURNAL OF HUMAN GENETICS. 86(5), 805-812.
- (2010). At the Frontier of Vision Research: The National Eye Institute Celebrates 40 Years. AMERICAN JOURNAL OF OPHTHALMOLOGY. 149(2), 179-181.
- (2010). Long-term 12 year follow-up of X-linked congenital retinoschisis. OPHTHALMIC GENETICS. 31(3), 114-125.
- (2010). Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. EYE. 24(5), 764-774.
- (2010). Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease. HUMAN MUTATION. 31(11), 1251-1260.
- (2010). Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. HUMAN MOLECULAR GENETICS. 19(7), 1302-1313.
- (2010). Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. BRITISH JOURNAL OF OPHTHALMOLOGY. 94(8), 1094-1099.
- (2010). Probing potassium channel function in vivo by intracellular delivery of antibodies in a rat model of retinal neurodegeneration. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 107(28), 12710-12715.
- (2010). Retinoschisin (RS1) Interacts with Negatively Charged Lipid Bilayers in the Presence of Ca2+: An Atomic Force Microscopy Study. BIOCHEMISTRY. 49(33), 7023-7032.
- (2009). Depleting Rac1 in mouse rod photoreceptors protects them from photo-oxidative stress without affecting their structure or function. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 106(23), 9397-9402.
- (2009). Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse. GENE THERAPY. 16(7), 916-926.
- (2009). Null Retinoschisin-Protein Expression from an RS1 c354del1-ins18 Mutation Causing Progressive and Severe XLRS in a Cross-Sectional Family Study. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 50(11), 5375-5383.
- (2009). Photoreceptor Protection by Adeno-Associated Virus-Mediated LEDGF Expression in the RCS Rat Model of Retinal Degeneration: Probing the Mechanism. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 50(8), 3897-3906.
- (2009). The Effects of Transient Retinal Detachment on Cavity Size and Glial and Neural Remodeling in a Mouse Model of X-Linked Retinoschisis. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 50(8), 3977-3984.
- (2008). Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration. MOLECULAR VISION. 14(260-62), 2227-2236.
- (2008). Night Blindness and the Mechanism of Constitutive Signaling of Mutant G90D Rhodopsin. JOURNAL OF NEUROSCIENCE. 28(45), 11662-11672.
- (2008). Organization and molecular interactions of retinoschisin in photoreceptors. Advances in Experimental Medicine and Biology. 613, 291-297.
- (2008). Photopic ERG negative response from amacrine cell signaling in RCS rat retinal degeneration. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 49(1), 442-452.
- (2008). Synaptic pathology in retinoschisis knockout (Rs1(-/y)) mouse retina and modification by rAAV-Rs1 gene delivery. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 49(8), 3677-3686.
- (2007). CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 48(8), 3864-3871.
- (2007). Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark. JOURNAL OF NEUROSCIENCE. 27(33), 8805-8815.
- (2007). Genetic ophthalmology and the era of clinical care. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 297(7), 733-736.
- (2007). Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants. CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE. 42(3), 399-402.
- (2007). Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: Long-term rescue from retinal degeneration. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 48(8), 3837-3845.
- (2007). Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 48(3), 991-1000.
- (2007). Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. HUMAN GENETICS. 122(3-4), 293-299.
- (2006). Ames waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 47(7), 3074-3084.
- (2006). Ciliary neurotrophic factor (CNTF) for human retinal degeneration: Phase I trial of CNTF delivered by encapsulated cell intraocular implants. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 103(10), 3896-3901.
- (2006). Congenital x-linked retinoschisis classification system. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 26(7), S61-S64.
- (2006). Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 47(10), 4558-4568.