EliasITraboulsiMD

PubMed

• 1 citations
  BEST1 Variant Associated with an Atypical Macular and Peripheral Retinal Phenotype.
  Singuri, S., DeBenedictis, M., Traboulsi, E., Yuan, A., Schur, R.> ;Retinal Cases & Brief Reports. 2023 Dec 5
• Indications for Systemic and Genetic Testing in Patients with Congenital Cataracts.
  Reem Amine, Elias I Traboulsi> ;Journal of Binocular Vision and Ocular Motility. 2023 Oct 2
• A. Linn Murphree, MD: the Mississippi man who conquered retinoblastoma and changed the fate of patients and their families.
  Jesse Berry, Elias I Traboulsi, Francis Munier> ;Ophthalmic Genetics. 2022 Dec 1
• Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence.
  Matthew W Russell, Justin C Muste, Kanika Seth, Collin A Rich, Rishi P Singh, Elias I Traboulsi, Madhukar Kumar> ;Ophthalmic Genetics. 2022 Dec 1
• 10 citations
  Effective gene therapy of Stargardt disease with PEG-ECO/nanoparticles.
  Da Sun, Wenyu Sun, Song-Qi Gao, Jonathan Lehrer, Amirreza Naderi, Cheng Wei, Sangjoon Lee, Andrew L Schilb, Josef Scheidt, Ryan C Hall, Elias I Traboulsi, Krzysztof Pa...> ;Molecular Therapy. Nucleic Acids. 2022 Sep 13
• 5 citations
  TOPICAL CARBONIC ANHYDRASE INHIBITORS IN THE LONG-TERM TREATMENT OF JUVENILE X-LINKED RETINOSCHISIS.
  Melanie A Schmitt, Kevin Wang, Meghan J DeBenedictis, Elias I Traboulsi> ;Retina. 2022 Nov 1
• 2 citations
  The landscape of submicroscopic structural variants at thegene cluster on Xq28 underlying blue cone monochromacy.
  Bernd Wissinger, Britta Baumann, Elena Buena-Atienza, Zeinab Ravesh, Artur V Cideciyan, Katarina Stingl, Isabelle Audo, Isabelle Meunier, Beatrice Bocquet, Elias I Tra...> ;Proceedings of the National Academy of Sciences of the United States of America. 2022 Jul 5
• 8 citations
  Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
  Solaki, M., Baumann, B., Reuter, P., Andreasson, S., Audo, I., Ayuso, C., Balousha, G., Benedicenti, F., Birch, D., Bitoun, P., Blain, D., Bocquet, B., Branham, K., Ca...> ;Human Mutation. 2022 Jul 1
• Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature.
  Sruthi Arepalli, Meghan M DeBenedictis, Alex Yuan, Elias I Traboulsi> ;Ophthalmic Genetics. 2022 Apr 6
• 4 citations
  related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases.
  H Al-Hindi, M Z Chauhan, R Sanders, H Samarah, M DeBenedictis, E Traboulsi, S H Uwaydat> ;Ophthalmic Genetics. 2022 Apr 1
• Preventing Retinal Detachment in Patients with Stickler Syndrome: The Effects of Preemptive Laser Photocoagulation.
  Elias I Traboulsi> ;Ophthalmology. Retina. 2022 Apr 1
• 3 citations
  Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males.
  Omar Babar Saeed, Elias I Traboulsi, Razek Georges Coussa> ;Eye. 2023 Feb 1
• 1 citations
  Ocular Findings in a Patient With KAT6A Mutation.
  LeAnne Young, Brian P. Brooks, Elias I. Traboulsi> ;Journal of Pediatric Ophthalmology and Strabismus. 2021 May 1
• Novel clinical presentation of a CRX rod-cone dystrophy
  Luis Alonso Gonzalez-Gonzalez, Hannah L. Scanga, Elias I. Traboulsi, Ken K. Nischal> ;BMJ Case Reports. 2021 Apr 28
• 4 citations
  Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations.
  Razek Georges Coussa, Elliott H. Sohn, Ian C. Han, Sumit Parikh, Elias I. Traboulsi> ;Ophthalmic Genetics. 2021 Apr 8
• 10 citations
  Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications.
  Razek Georges Coussa, Sumit Parikh, Elias I. Traboulsi> ;Survey of Ophthalmology. 2021 Feb 18
• 3 citations
  Pursuing Excellence: Driving GME Integration With Health System Strategic Priorities.
  Elias I. Traboulsi, Anita K. Blanchard, Morgan Passiment, Dewesh Agrawal, Robert B. Baron, Laurinda Calongne, Diane M. Hartmann, Jonathan MacClements, Pavan Zaveri, Ka...> ;Journal of Graduate Medical Education. 2021 Feb 1
• 1 citations
  Hereditary Systemic Diseases Can Have a Predominant Ocular Phenotype, but They Are Still Systemic Diseases
  Elias I. Traboulsi> ;JAMA Ophthalmology. 2021 Jan 28
• Best Practices for Building and Supporting Effective ACGME-Mandated Program Evaluation Committees.
  Jessica Greenfield, Elias I. Traboulsi, Krista Lombardo-Klefos, S. Beth Bierer> ;Mededportal. 2020 Dec 10
• 5 citations
  CLER Pursuing Excellence: Designing a Collaborative for Innovation.
  Morgan Passiment, Pavan Zaveri, Elias I. Traboulsi, Kalli Varaklis, Anita K. Blanchard, Robert B. Baron, Laurinda Calongne, Diane M. Hartmann, Jonathan MacClements, De...> ;Journal of Graduate Medical Education. 2020 Aug 1
• 1 citations
  Rate of ocular trauma in children operated on for unilateral cataract in infancy—data from the Infant Aphakia Treatment Study
  Elias I. Traboulsi, Carolyn Drews-Botsch, Stephen P. Christiansen, Ann U. Stout, E Eugenie Hartmann, Scott R. Lambert> ;Journal of AAPOS. 2020 Aug 31
• 7 citations
  Recurrent Rare Copy Number Variants Increase Risk for Esotropia.
  Mary C. Whitman, Silvio Alessandro Di Gioia, Wai-Man Chan, Alon Gelber, Brandon M Pratt, Jessica L. Bell, Thomas E Collins, James A. Knowles, Christopher Armoskus, Mic...> ;Investigative Ophthalmology & Visual Science. 2020 Aug 3
• 2 citations
  Hickam’s Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient
  Kevin Wang, Brittney Statler, Michael Ramos, Meghan J DeBenedictis, Amy Babiuch, Alex Yuan, Elias I. Traboulsi> ;Ophthalmic Genetics. 2020 Jul 15
• 9 citations
  Outcomes of Bilateral Cataract Surgery in Infants 7 to 24 Months of Age: Toddler Aphakia and Pseudophakia Study (TAPS)
  Erick D. Bothun, M. Edward Wilson, Kimberly G. Yen, Jill S. Anderson, Natalie C. Weil, Allison R. Loh, David G. Morrison, Sharon F. Freedman, David A. Plager, Deborah ...> ;Ophthalmology. 2020 Jul 15
• 5 citations
  Successful pediatric DMEK facilitated by intracameral tissue plasminogen activator to mitigate anterior chamber fibrin reaction.
  Tanner J. Ferguson, Elias I. Traboulsi, Jeffrey M. Goshe> ;American Journal of Ophthalmology Case Reports. 2020 Jun 30
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Journal Articles

• Hereditary Systemic Diseases Can Have a Predominant Ocular Phenotype, but They Are Still Systemic Diseases  
  Elias Traboulsi, MD, JAMA Ophthalmology
• Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect  
  David G Hunter, Sarah U Morton, Elizabeth C Engle, Mary C Whitman, Elias I Traboulsi, Investigative Ophthalmology and Visual Science
• The ocular findings in Kniest dysplasia.  
  Maumenee IH, Traboulsi EI, Amer J Ophthalmol
• Ocular findings in Cockayne syndrome.  
  Traboulsi EI, DeBecker I, Maumenee IH, Am J Ophthalmol
• Neovascular glaucoma and Ischemia in Wyburn-Mason syndrome.  
  Traboulsi EI, J Clin Neuro-Ophthalmol
• Autosomal recessive pericentral pigmentary retinopathy (Correspondence).  
  Traboulsi EI, O’Neill JF, Maumenee IH, Amer J Ophthalmol
• Familial congenital cornea guttata with anterior polar cataracts.  
  Traboulsi EI, Weinberg RG, Amer J Ophthalmol
• X-linked microphthalmia syndrome.  
  Traboulsi EI, Amer J Med Genet
• Developmental genes and ocular malformation syndromes.  
  Traboulsi EI, Am J Ophthalmol
• Visual prognosis in Kjer type autosomal dominant optic atrophy.  
  Eliott D, Traboulsi EI, Maumenee IH, Am J Ophthalmol
• Congenital fibrosis of the extraocular muscles: Report of 24 cases illustrating the clinical spectrum and surgical management.  
  Traboulsi EI, Jaafar MS, Kattan H, Parks MM, Am Orthop J
• Retinal dystrophy in the cardio-facio-cutaneous syndrome.  
  Dunya I, Hoon A, Traboulsi EI, J Pediatr Ophthalmol Strabism
• Ocular findings in adults with mucopolysaccharidosis II-B (Hunter syndrome - mild).  
  Al Hazzaa SAF, Traboulsi EI, Maumenee IH, Mid East J Ophthalmol
• Visual loss in the Miller-Dieker syndrome.  
  Hamush N, Traboulsi EI, Mid East J Ophthalmol
• Strabismus in the Marfan syndrome.  
  Izquierdo N, Traboulsi EI, Enger C, Maumenee IH, Am J Ophthalmol
• Visual outcome after surgery for Peters’ anomaly.  
  Gollamudi SR, Traboulsi EI, Chamon W, Stark WJ, Maumenee IH, Ophthalm Genet
• Moyamoya disease, ocular malformations and midline cranial defects – A distinct syndrome.  
  Bakri S, Siker D, Masaryk T, Luciano MG, Traboulsi EI, Am J Ophthalmol
• Intraocular lenses in children.  
  Traboulsi EI, Mid E J Ophthalmol
• The Genetics of Glaucoma.  
  Traboulsi EI, Mid E J Ophthalmol
• Ocular findings in a family with Sotos syndrome (cerebral gigantism).  
  Koenekoop RK, Rosenbaum KN, Traboulsi, EI, Am J Ophthalmol
• Dominant inheritance of optic pits.  
  Traboulsi EI, Am J Ophthalmol
• Splenomegaly and iron deficiency anemia.  
  Saab G, Traboulsi EI, M E J Anesth
• Ocular hemodynamics in pre-ecclampsia.  
  Nasr A, To’mey KF, Ataya KF, Jabbour NM, Traboulsi EI, J Ocul Therapy
• Occipital cortical infarction complicating respiratory failure.  
  Frangieh GT, Traboulsi EI, Faris BM, J Clin Neuro-Ophthal¬mol
• Scientific communications and the peer review process.  
  Traboulsi, EI, M E J Ophthalmol
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Books/Book Chapters

• Eye Problems. 
  Chapter: Textbook of Pediatrics 
  Page 805 - 825Traboulsi EI, Maumenee IHEditors: Oski F.WB Lippincott Co
• Ophthalmologic abnormalities in patients with familial adenomatous polyposis. 
  Chapter: Familial Adenomatous Polyposis 
  Page 125 - 131Traboulsi EI, Maumenee IHEditors: Herrera L.Alan R. Liss, Inc, New York
• Ocular findings in Turner syndrome. 
  Chapter: The Eye in Systemic Disease 
  Page 26 - 27Traboulsi EI, Chrousos GAEditors: Gold DH, Weingeist TA.WB Lippincott Co
• The eye in the mucopolysaccharidoses. 
  Chapter: The Eye in Systemic Disease 
  Page 372 - 376Frangieh GT, Traboulsi EI, Kenyon KREditors: Gold DH, Weingeist TA.WB Lippincott Co
• Ophthalmology. 
  Chapter: the Birth Defects Encyclopedia 
  Traboulsi EIEditors: Buyse ML.Blackwell Scientific Publ
• Retinopathies and nyctalopia. 
  Chapter: Clinical Decisions in Pediatric Ophthalmology 
  Page 216 - 219Connor T, Traboulsi EIEditors: Cibis G, Cibis-Tongue A, Stass-Isern ML.Mosby-year Book, Inc
• Congenital Malformations of the Eye and Ocular Adnexae. 
  Chapter: Human Malformations 
  Page 163 - 192Traboulsi EIOxford University Press
• Antenatal diagnosis of ophthalmic disease. 
  Chapter: The Eye in Infancy 
  Page 29 - 35Traboulsi EIEditors: Isenberg S.C.V. Mosby CoEdition 2nd,
• Eye Problems. 
  Chapter: Principles and Practice of Pediatrics 
  Page 878 - 898Traboulsi EI, Maumenee IHEditors: Oski F.JB Lippincott
• Mucopolysaccharidosis II. 
  Chapter: Current Ocular Therapy 
  Page 171 - 172Traboulsi EIEditors: Fraunfelder FT, Roy FH.WB Saunders PublEdition 4th,
• Mucopolysaccharidosis III. 
  Chapter: Current Ocular Therapy 
  Page 172 - 173Traboulsi EIEditors: Fraunfelder FT, Roy FH.WB Saunders PublEdition 4th,
• Ectopia lentis and associated systemic disease. 
  Chapter: Molecular Genetics of Ocular Disease 
  Page 219 - 233Traboulsi EIEditors: Wiggs J.Wiley-Liss, Inc, New York
• Connective Tissue, Skin and Bone Disorders. 
  Chapter: Pediatric Ophthalmology and Strabismus 
  Page 649 - 672Traboulsi EI, Murphree ALEditors: Wright KR.CV Mosby, St. Louis
• The Eye in Albinism. 
  Chapter: Duane’s Clinical Ophthalmology 
  Page 1 - 20Traboulsi EI, Green WR, O’Donnell FLippincott – Raven
• Skeletal and Connective Tissue Disorders with Corneal Manifestations. 
  Chapter: Cornea 
  Page 925 - 942Traboulsi EI, Kattan HEditors: Krachmer JH, Mannis MJ, Holland EJ.CV Mosby, St. Louis
• Congenital pigmentary disorders of the RPE. 
  Chapter: RPE - Current Aspects of Function and Disease 
  Page 307 - 325Santos A, Traboulsi EIEditors: Marmor MF, Wolfensberger TJ.Oxford University Press, New York
• Metabolic diseases and the eye. 
  Chapter: Duane’s Clinical Ophthalmology 
  Page 1 - 47Al-Hazzaa S, Ozand P, Traboulsi EILippincott – Raven
• Accommodating Advances in Ophthalmology in a Cost-Containment Environment. 
  Traboulsi EIGeorgetown University, Institute for Health Policy Analysis
• Genetic Diseases of the Eye. 
  Chapter: Series of Monographs in Medical Genetics 
  Traboulsi EIOxford University Press
• A Compendium of Inherited Disorders and the Eye. 
  Chapter: the American Academy of Ophthalmology, The Monographs Series 
  Traboulsi EIOxford University Press
• Retinal Imaging. 
  Chapter: Elsevier Science 
  Huang D, Kaiser P, Lowder C and Traboulsi EI
• Genetic Diseases of the Eye. 
  Chapter: Series of Monographs in Medical Genetics 
  Traboulsi EIOxford University PressEdition 2nd,
• 21st Annual Midwest Glaucoma Symposium. 
  Chapter: Update on Genetics of Glaucoma and Associated Conditions 
  Traboulsi, EIOphthalmology Interactive
• Surgery for childhood cataracts. 
  Chapter: Ophthalmic Surgery 
  Page 224 - 229Traboulsi EIEditors: Gottsch JD, Stark WJ, Goldberg MF.LondonEdition 5th,
• Congenital hypertrophy of the retinal pigment epithelium. 
  Chapter: Vitreous, Retina, Macula: A Comprehensive Textbook 
  Page 1058 - 1066Humayun M, Traboulsi EIEditors: Yannuzzi LA, Guyer DR, Chang S, Shields J, Green WR.CV Mosby, St. Louis
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Abstracts/Posters

• The association of a fragile site on chromosome 10 with the Sturge-Weber syndrome and congenital glaucoma.
  Traboulsi EI, Dudin GE, To’mey KF, Bashow AO, Solh HMB, Ophthalm Paed Genet
• Waardenburg’s recessive anophthalmia syndrome.
  Traboulsi EI, Nasr AM, Fahd SD, Jabbour NM, Der Kalous¬tian VM, Ophthal Ped Genet

Other

• Peters’ anomaly and associated congenital malformations. 
  Traboulsi EI, Maumenee IH, Arch Ophthalmol
• Hereditary retinal dystrophy. 
  Maumenee IH, Traboulsi EI, Clin Decisions in Ophthalmol
• Corneal changes in familial iris coloboma. 
  Traboulsi EI, Ophthalmol
• Infantile glaucoma in Down’s syndrome (trisomy 21). 
  Traboulsi EI, Levine E, Mets MB, Parelhoff ES, O’Neill JF, Gaasterland DE, Amer J Ophthalmol
• CHRPE in Non-Gardner’s familial polyposis patients. 
  Traboulsi EI, Ophthalmol
• Familial adenomatous polyposis. 
  Traboulsi EI, Dis Col Rectum
• Glaucoma in the Marfan syndrome. 
  Izquierdo NJ, Traboulsi EI, Enger C, Maumenee IH, Tr Am Ophthalmol Soc
• Symposium on Coping with Advances in Ophthalmology in a Cost-Containment Environment. 
  Traboulsi EI, The Institute of Health Policy Analysis, Georgetown University Medical Center
  Washington, D.C
• Genetic and metabolic diseases and congenital defects. 
  Traboulsi EI, Ophthalmol
• Autosomal dominant vitreoretinochoroidopathy and presenile cataracts. Report of the third family. 
  Traboulsi EI, Payne J, Arch Ophthalmol
• Systemic associations of pigmentary retinopathy. 
  Drack AV, Traboulsi EI, Int Ophthalm Clin
• Bread-crumb retinopathy. 
  Traboulsi EI, Retina
• Morning glory disc anomaly or optic disc coloboma. 
  Traboulsi EI, Arch Ophthalmol
• Pigmented fundus lesions in a pre-term infant with familial adenomatous polyposis. 
  Aiello LP, Traboulsi EI, Arch Ophthalmol
• Ocular findings in 18q- syndrome. 
  Izquierdo N, Traboulsi EI, Maumenee IH, Ophthalm Paediatr Genet
• Genetic heterogeneity among blue cone monochromats. 
  Nathans J, Maumenee IH,..., Traboulsi EI, et al, Am J Hum Genet
• A new syndrome of myelinated nerve fibers, vitreoretinopathy and skeletal malformations. 
  Traboulsi EI, Lim JI, Pyeritz R, Goldberg HK, Haller JA, Arch Ophthalmol
• Photoaversion in Leber’s congenital amaurosis. 
  Traboulsi EI, Maumenee IH, Ophthalm Genet
• A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. 
  Shawaf S, Noureddin B, Khouri A, Traboulsi EI, Ophthalm Genet
• Practice guidelines for the patient with suspected ocular nonretinal genetic disorder. 
  Traboulsi EI, Semin Ophthalmol
• Immunohistochemical localization of fibrillin in human ocular tissues. 
  Wheatley HM, Traboulsi EI, Flowers BE, Maumenee IH, Whittum-Hudson J, Arch Ophthalmol
• A tribute to Mette Warburg. Editorial. 
  Traboulsi EI, Lorenz B, Ophthalm Genet
• APC mutations and pigmented ocular fundus lesions in familial adenomatous polyposis. 
  Traboulsi EI, Apostolides J, Giardiello F, Krush A, Hamilton S, Maumenee IH, Ophthalm Genet
• Recommendations of the American Academy of Ophthalmology Task Force on Genetic Testing. 
  Stone EM, Aldave AJ, Drack AV, MacCumber MW, Sheffield VC, Traboulsi EI, Weleber RG
• Coats’ disease and central nervous system malformation. 
  Robitaille J, Traboulsi EI, Ophth Genet
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