Richard Alan Lewis, M.D., M.S.
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Positions
- Professor
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Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas United States
- Professor
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Ophthalmology
Baylor College of Medicine
Houston, TX US
- Professor
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Medicine
Baylor College of Medicine
Houston, Texas United States
- Professor
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Pediatrics
Baylor College of Medicine
Houston, Texas United States
- Faculty Associate
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Huffington Center on Aging
Baylor College of Medicine
Houston, Texas United States
- Member
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National School of Tropical Medicine
Baylor College of Medicine
Houston, Texas United States
- Member
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Dan L Duncan Comprehensive Cancer Center
Baylor College of Medicine
Houston, Texas United States
Addresses
- Jamail Specialty Care Center - Alkek Eye Center (Clinic)
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1977 Butler Blvd.
3rd Floor
Houston, TX 77030
United States
Phone: (713) 798-6100
https://www.bcm.edu/healthcare/care-centers/eye/
Education
- BA from Harvard College
- 01/1965 - Cambridge, MA United States
- MD from University Of Michigan Medical School
- 01/1969 - Ann Arbor, MI United States
- MS from University Of Michigan
- 01/1974 - Ann Arbor, MI United States
Professional Interests
- Studies of hereditary eye disorders, especially those afflicting infants and children, and the ocular manifestations of genetic systemic disorders.
Professional Statement
Dr. Lewis, an ophthalmologist affiliated with the Cullen Eye Institute, joined the Department of Molecular and Human Genetics to provide in-depth consultations and research in genetic eye disorders and ocular manifestations of systemic hereditary disorders for Texas Children’s Hospital and the adult Genetics Services at the Baylor-affiliated hospitals. His clinical practice includes genetic eye disease and their constitutional associations. With numerous members of the Department, he and his colleagues pioneered the mapping and isolation of many X-linked ocular disorders, including X-linked retinitis pigmentosa, choroideremia, the oculo-cerebro-renal syndrome of Lowe, blue cone monochromacy, X-linked Nettleship-Falls ocular albinism, and the Nance-Horan X-linked cataract-dental syndrome.Lewis and Dr. David Nelson collaborated and isolated the gene for Incontinentia Pigmenti (IP2) at Xq28, an X-dominant disorder with multisystem complications in the eye, skin, brain and teeth, and embryonic lethality in males. Studies with Dr. Igna Van den Veyver and Dr. Reid Sutton continue the search for the genetic construct for Aicardi Syndrome, another distinctive phenotype in females only with extreme retinal and optic nerve malformations and profound brain and developmental consequences.
For many years, he has collaborated with Dr. James Lupski on studies of Mendelian ocular disorders, including Stargardt disease/fundus flavimaculatus (the most common genetic juvenile macular degeneration), the Laurence-Moon-Bardet-Biedl syndromes (progressive retinal dystrophy with obesity, polydactylia, developmental disability, and various renal anomalies), the Usher syndromes (retinitis pigmentosa and neurosensory deafness), and Leber congenital amaurosis (genetically heterogeneous disorders that share profound visual impairment from birth and other systemic features from neurosensory hearing impairment to progressive renal failure). The first human examples of digenic triallelic inheritance in man were defined from their extensive studies of his LMBBS cohort. The role of the Stargardt disease gene in age-related macular degeneration and autosomal recessive forms of retinitis pigmentosa were explored here first as well.
Ongoing collaborations with Lupski and Dr. Jennifer Posey included the discovery of the gene for the “Hutterite-type” juvenile-onset cataract and the recognition that this gene may also cause subsequent sudden death of these individuals in their third and fourth decades of life; the study of an unusual autosomal dominant form of progressive retinal dystrophy uniquely associated with mitral valve prolapse and other cardiac malformations; the genetic evaluation of a multigenerational Texas family with autosomal dominant optic atrophy preceding nearly uncontrollable grand mal seizures first identified by Dr. Arthur Beaudet; the search for the underlying genetic mechanism(s) of the Hallermann-Streiff syndrome, a rare ectodermal dysplasia with a distinctive face, beaked nose, natal teeth, thin hair, congenital and often spontaneously resorbing cataracts, and proportionate short stature; and the investigations of the spectrum of septo-optic dysplasia, optic nerve hypoplasia, and cerebral visual impairment, the Goldenhar syndrome, and investigations of yet-unsolved forms of ectodermal dysplasia.
Lewis also serves on the Steering Committee of Baylor’s Undiagnosed Disease Network program. He has been a member of the Steering Committee of the National Eye Institute’s National Ophthalmic Disease Genotyping Network (eyeGENE) Program since its inception in 2003 and its Chair since 2009. He was the principal investigator for Baylor of the Studies of the Ocular Complications of AIDS (SOCA) for its entire 25-year history, the longest single NIH-funded research protocol in the history of the Department of Ophthalmology, and the sole principal investigator for the Age-Related Eye Disease Study 2 (AREDS2), that demonstrated that neither lutein nor fish oil (nor both) reduces the risk of progression of macular degeneration in older Americans and that supplemental micronutrients do not protect against cognitive decline.
Websites
Selected Publications
- Zaenglein AL, Levy ML. Stefanko NS, (…), Lewis RA, (…) PeDRA Use of Retinoids in Ichthyosis Work Group "Consensus Recommendations for the Use of Retinoids in Ichthyosis and other Disorders of Cornification in Children and Adolescents." Pediat Dermatol.. 2021;38:164-180.
- Keehan LA, Jiang M-M, Marom R, (…), Lewis RA, (…), Craigen WJ, Rosenfeld JA, Lee B, Burrage LC "A novel de novo intronic variant in ITPR1 causes Gillespie syndrome." Am J Med Genet Part A.. 2021;185:2315-2324.
- Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, et al. "Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome." Am J Hum Genet. 2018;102:1126-1142.
- Chambers TM, Agopian AJ, Lewis RA, Langlois PH, Danysh HE, Weber KA, Shaw GM, Mitchell LE, Lupo PJ "Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999-2009.." Am J Med Genet A.. 2018;176:1810-1818.
- Luo X, Rosenfeld JA, Yamamoto S, Harel T, (…), Lewis RA, (…) Lupski JR, Lee B, Bellen HJ, Wangler MF "Clinically Severe CACNA1A Alleles Affect Synaptic Function and Neurodegeneration Differentially.." PLoS Genet.. 2017;13:e1006905.
- Chen CA, Yin J, Lewis RA, Schaaf CP "Genetic Causes of Optic Nerve Hypoplasia.." J Med Genet.. 2017;54:441-449.
- Wong BK, Sutton VR, Lewis RA, Van den Veyver IB "Independent Variant Analysis of TEAD1 and OCRL1 in 38 Aicardi Syndrome Patients.." Mol Genet Genomic Med.. 2017;5:117-121.
- Wang X, Feng Y, Li J, Zhang VW Wang J, Lewis RA, Wong L-J "Retinal Diseases Caused by Mutations in Genes not specifically Associated with the Clinical Diagnosis.." PLoS One. 2016;11:e0165405.
- Harel T, Yoon WH, Garone C, (…), Lewis RA, (…), Potocki L, Graziano C, Bellen HJ, Lupski JR "Recurrent de novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.." Am J Hum Genet.. 2016;99:831-845.
- Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, (...), Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N "Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.." Am J Hum Genet.. 2016;99:318-36.
- Boone PM, Yuan B, Gu S, Ma Z, (...), Lewis RA "Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.." Mol Genet Genomic Med.. 2015;4:77-94.
- Chew EY, Clemons TE, Agrón E, Launer LJ, Grodstein F, Bernstein PS; Age-Related Eye Disease Study 2 (AREDS2) Research Group "Effect of Omega-3 Fatty Acids, Lutein/Zeaxanthin, or Other Nutrient Supplementation on Cognitive Function: The AREDS2 Randomized Clinical Trial." JAMA. 2015 Aug;314:791-801. Pubmed PMID: 26305649
- Shaibani A, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M "Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene." Int J Neurosci. 2015 Jan;125:43-9. Pubmed PMID: 24628582
- Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N "Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome." Am J Hum Genet. 2014 May;94(5):745-54. Pubmed PMID: 24746959
- Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ "Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa." Invest Ophthalmol Vis Sci. 2014 Aug;55:6213-23. Pubmed PMID: 25097241
- Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP "A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa." Invest Ophthalmol Vis Sci. 2014 Sep 4;55:7147-58. Pubmed PMID: 25190649
- Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE "Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.." BMC Med Genet.. 2013 Aug 16;14:83. Pubmed PMID: 23947751
- Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM "Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.." Am J Med Genet A.. 2013 Sep;161(9):2305-10. Pubmed PMID: 23897642
- Age-Related Eye Disease Study 2 (AREDS2) Research Group, Chew EY, SanGiovanni JP, ..., Bernstein P "Lutein/zeaxanthin for the treatment of age-related cataract: AREDS2 randomized trial report no. 4.." JAMA Ophthalmol.. 2013 Jul;131(7):843-50. Pubmed PMID: 23645227
- Age-Related Eye Disease Study 2 Research Group "Lutein + zeaxanthin and omega-3 fatty acids for age-related macular degeneration: the Age-Related Eye Disease Study 2 (AREDS2) randomized clinical trial.." JAMA. 2013 May 15;309(19):2005-15. Pubmed PMID: 23644932
- Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP "Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.." Invest Ophthalmol Vis Sci.. 2013 Feb 19;54(2):1411-6. Pubmed PMID: 23372056
- Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, We "Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease.." Invest. Ophthalmol. Vis. Sci.. 2012;53(13):8232-7. Pubmed PMID: 23150612
- Fruhman G, Eble TN, Gambhir N, Sutton VR, Van den Veyver IB, Lewis RA "Ophthalmologic findings in Aicardi syndrome.." J AAPOS. 2012 Jun;16(3):238-41. Pubmed PMID: 22681940
- Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovna "Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling.." Cell. 2012 Aug 3;150(3):533-48. Pubmed PMID: 22863007
Funding
- Principal Investigator Studies of the Ocular Complications of AIDS (LSOCA)
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