Shizuo Mukai,
MD
Massachusetts Eye and Ear
Associate Scientist
Harvard Medical School
Associate Professor of Ophthalmology
About My Research
Center/Research Area Affiliations
Biography
Dr. Mukai is a clinician scientist with clinical expertise in the surgical and medical management of vitreoretinal diseases, including complex retinal detachments, pediatric retina, intraocular tumors of the posterior segment (especially retinoblastoma), genetic retinal diseases, and retinal imaging. His research interests include molecular biology of retinal diseases (especially retinoblastoma) and proliferative vitreoretinopathy, new treatment approaches to retinoblastoma, smartphone-based retinal imaging and computerized image analysis, phenotype-genotype correlations in genetic retinal conditions, and retinal stem cells.
Education
1979: AB, Studio Art, Brown University
1979: ScB, Biology, Brown University
1982: Biology, Brown University Graduate School
1982: MD, Brown University School of Medicine
Postgraduate Training
1983: Internship, Medicine, Mount Auburn Hospital
1985: Research Fellowship, Molecular Genetics and Eye Pathology, Massachusetts Eye an Ear
1988: Residency, Ophthalmology, Massachusetts Eye and Ear
1990: Clinical Fellowship, Chief Fellow, Retina, Massachusetts Eye and Ear
Academic Appointments
2012-present: Associate Professor of Ophthalmology, Harvard Medical School
1992-2012: Assistant Professor of Ophthalmology, Harvard Medical School
1990-1992: Instructor in Ophthalmology, Harvard Medical School
Publications powered by Harvard Catalyst Profiles
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration. Res Sq. 2024 Feb 09.
- Longitudinal Characteristics of Choroidal Neovascular Membrane in Pediatric Patients. Am J Ophthalmol. 2024 Jan 07; 261:76-84.
- An ultralow-cost portable centrifuge from discarded materials for medical applications. Sci Rep. 2023 02 22; 13(1):3081.
- Refractory Choroidal Neovascularization in a Patient With Pseudoxanthoma Elasticum and Cowden Syndrome. J Vitreoretin Dis. 2023 Jan-Feb; 7(1):70-73.
- Low-dose proton radiotherapy for pediatric choroidal hemangioma: A case series. Pediatr Blood Cancer. 2022 12; 69(12):e29925.
- The Effect of Sample Medication Use on Subsequent Anti-VEGF Agent Selection for Neovascular Age-Related Macular Degeneration. Semin Ophthalmol. 2022 Oct-Nov; 37(7-8):902-908.
- Restoration of Vision in Severe, Cicatricial, Ocular Surface Disease With the Boston Keratoprosthesis Type II. Am J Ophthalmol. 2022 11; 243:42-54.
- Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome. Ophthalmic Genet. 2023 04; 44(2):198-203.
- Two pediatric cases of reticular corneal epithelial edema associated with netarsudil. Am J Ophthalmol Case Rep. 2022 Sep; 27:101638.
- The Prevalence of Retinal Disease and Associated CNS Disease in Young Patients with Incontinentia Pigmenti. Ophthalmol Retina. 2022 12; 6(12):1113-1121.
- SARS-CoV-2 RNA Detected in Vitreous Samples Obtained at Autopsy. J Vitreoretin Dis. 2022 May-Jun; 6(3):183-187.
- Endoscopic Cyclophotocoagulation in Boston Keratoprosthesis Type II. Ophthalmol Glaucoma. 2022 Jan-Feb; 5(1):120-123.
- Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3. Ophthalmic Genet. 2021 06; 42(3):334-337.
- Detection of retinal microvascular changes in von Hippel-Lindau disease using optical coherence tomography angiography. PLoS One. 2020; 15(2):e0229213.
- Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud. 2020 02; 6(1).
- PI3Kd as a Novel Therapeutic Target in Pathological Angiogenesis. Diabetes. 2020 04; 69(4):736-748.
- Inexpensive and Open-Source Devices and Systems for Retinal Imaging. Int Ophthalmol Clin. 2020; 60(1):35-45.
- Late-Onset Retinal Findings and Complications in Untreated Retinopathy of Prematurity. Ophthalmol Retina. 2020 06; 4(6):602-612.
- Efficacy of Retinal Lesion Screening in Von Hippel-Lindau Patients With Widefield Color Fundus Imaging Versus Widefield FA. Ophthalmic Surg Lasers Imaging Retina. 2019 11 01; 50(11):e260-e265.
- Autonomous early detection of eye disease in childhood photographs. Sci Adv. 2019 10; 5(10):eaax6363.
- SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FINDINGS IN COATS DISEASE. Retina. 2019 Jun; 39(6):1177-1185.
- Characterization of Epiretinal Proliferation in Full-Thickness Macular Holes and Effects on Surgical Outcomes. Ophthalmol Retina. 2019 08; 3(8):694-702.
- Longitudinal Examination of Fellow-Eye Vascular Anomalies in Coats' Disease With Widefield Fluorescein Angiography: A Multicenter Study. Ophthalmic Surg Lasers Imaging Retina. 2019 04 01; 50(4):221-227.
- Early Neuroblastic and Astrocytic Differentiation Demonstrated Immunohistochemically in a Small Intraocular Medulloepithelioma. Ocul Oncol Pathol. 2018 Apr; 4(3):176-181.
- Introduction of the MDM2 T309G Mutation in Primary Human Retinal Epithelial Cells Enhances Experimental Proliferative Vitreoretinopathy. Invest Ophthalmol Vis Sci. 2017 10 01; 58(12):5361-5367.
- A Portable, Inexpensive, Nonmydriatic Fundus Camera Based on the Raspberry Pi® Computer. J Ophthalmol. 2017; 2017:4526243.
- Editing VEGFR2 Blocks VEGF-Induced Activation of Akt and Tube Formation. Invest Ophthalmol Vis Sci. 2017 02 01; 58(2):1228-1236.
- Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies. Ophthalmic Genet. 2017 Jan-Feb; 38(1):51-60.
- Modern Surgical Techniques in the Management of Retinoblastoma. Int Ophthalmol Clin. 2017; 57(1):195-218.
- Analysis of patient outcomes following proton radiation therapy for retinoblastoma. Adv Radiat Oncol. 2017 Jan-Mar; 2(1):44-52.
- Prevention of Proliferative Vitreoretinopathy by Suppression of Phosphatidylinositol 5-Phosphate 4-Kinases. Invest Ophthalmol Vis Sci. 2016 07 01; 57(8):3935-43.
- Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study. Ophthalmology. 2016 08; 123(8):1802-1808.
- Long-term Follow-up and Outcomes in Traumatic Macular Holes. Am J Ophthalmol. 2016 06; 166:206-207.
- Long-term Follow-up and Outcomes in Traumatic Macular Holes. Am J Ophthalmol. 2015 Dec; 160(6):1255-1258.e1.
- RasGAP Promotes Autophagy and Thereby Suppresses Platelet-Derived Growth Factor Receptor-Mediated Signaling Events, Cellular Responses, and Pathology. Mol Cell Biol. 2015 May; 35(10):1673-85.
- Concurrent threshold retinopathy of prematurity and abusive head trauma. JAMA Ophthalmol. 2015 Jan; 133(1):84.
- Laser Therapy Versus Anti-VEGF Agents for Treatment of Retinopathy of Prematurity. Int Ophthalmol Clin. 2015; 55(4):81-90.
- Vascular endothelial growth factor acts primarily via platelet-derived growth factor receptor a to promote proliferative vitreoretinopathy. Am J Pathol. 2014 Nov; 184(11):3052-68.
- Proton radiation therapy for the treatment of retinoblastoma. Int J Radiat Oncol Biol Phys. 2014 Nov 15; 90(4):863-9.
- New insights into the development of infantile intraocular medulloepithelioma. Am J Ophthalmol. 2014 Dec; 158(6):1275-1296.e1.
- Dystrophic hyaloid artery remnants and other abnormalities in a buphthalmic eye with retinoblastoma. Surv Ophthalmol. 2014 Nov-Dec; 59(6):636-42.
- Is neutralizing vitreal growth factors a viable strategy to prevent proliferative vitreoretinopathy? Prog Retin Eye Res. 2014 May; 40:16-34.
- Colorimetric and longitudinal analysis of leukocoria in recreational photographs of children with retinoblastoma. PLoS One. 2013; 8(10):e76677.
- Second nonocular tumors among survivors of retinoblastoma treated with contemporary photon and proton radiotherapy. Cancer. 2014 Jan 01; 120(1):126-33.
- Simple, inexpensive technique for high-quality smartphone fundus photography in human and animal eyes. J Ophthalmol. 2013; 2013:518479.
- X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):392-6.
- Radiation therapy: retinal tumors. Dev Ophthalmol. 2013; 52:58-74.
- Standard fractionation low-dose proton radiotherapy for diffuse choroidal hemangiomas in pediatric Sturge-Weber syndrome. J AAPOS. 2013 Jun; 17(3):318-22.
- Ranibizumab is a potential prophylaxis for proliferative vitreoretinopathy, a nonangiogenic blinding disease. Am J Pathol. 2013 May; 182(5):1659-70.
- Smartphone photography safety. Ophthalmology. 2012 Oct; 119(10):2200-1; author reply 2201.
- A novel function of p53: a gatekeeper of retinal detachment. Am J Pathol. 2012 Sep; 181(3):866-74.
- Cooperation between Rb and Arf in suppressing mouse retinoblastoma. J Clin Invest. 2012 May; 122(5):1726-33.
- A novel strategy to develop therapeutic approaches to prevent proliferative vitreoretinopathy. Am J Pathol. 2011 Dec; 179(6):2931-40.
- Expression of PDGFRa is a determinant of the PVR potential of ARPE19 cells. Invest Ophthalmol Vis Sci. 2011 Aug 24; 52(9):5016-21.
- miR-17~92 cooperates with RB pathway mutations to promote retinoblastoma. Genes Dev. 2011 Aug 15; 25(16):1734-45.
- Posterior uveal melanoma in young patients treated with proton beam therapy. Retina. 2010 Sep; 30(8):1267-71.
- Idiopathic subfoveal choroidal neovascular membrane in a 21-month-old child: ultrastructural features and implication for membranogenesis. J AAPOS. 2010 Jun; 14(3):244-50.
- Visual outcomes of vitreoretinal surgery in eyes with severe open-globe injury presenting with no-light-perception vision. Graefes Arch Clin Exp Ophthalmol. 2009 Apr; 247(4):477-83.
- Retinal and choroidal biopsy. Int Ophthalmol Clin. 2009; 49(1):145-54.
- Ocular melanocytoma. Int Ophthalmol Clin. 2009; 49(1):165-75.
- Retinoblastoma: genetics and pathology. Int Ophthalmol Clin. 2009; 49(1):155-64.
- Inherited proliferative vitreoretinopathies of childhood. Int Ophthalmol Clin. 2008; 48(2):159-74.
- Coats' disease. Int Ophthalmol Clin. 2008; 48(2):149-58.
- Stargardt's disease and the ABCR gene. Semin Ophthalmol. 2008 Jan-Feb; 23(1):59-65.
- Diagnosis, classification, and treatment of retinoblastoma. Int Ophthalmol Clin. 2008; 48(2):135-47.
- The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. Semin Ophthalmol. 2007 Oct-Dec; 22(4):211-7.
- Molecular genetics of RB1--the retinoblastoma gene. Semin Ophthalmol. 2007 Oct-Dec; 22(4):247-54.
- Murine bilateral retinoblastoma exhibiting rapid-onset, metastatic progression and N-myc gene amplification. EMBO J. 2007 Feb 07; 26(3):784-94.
- Histology of retina overlying bacterial subretinal abscess and implications for treatment. Retin Cases Brief Rep. 2007; 1(4):257-60.
- Pars plana vitrectomy in eyes treated for retinoblastoma. Retina. 2006 Sep; 26(7 Suppl):S53-6.
- Predictors of visual outcome and choroidal neovascular membrane formation after traumatic choroidal rupture. Arch Ophthalmol. 2006 Jul; 124(7):957-66.
- Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye. N Engl J Med. 2006 Feb 16; 354(7):741-8.
- Intraocular lymphoma. Int Ophthalmol Clin. 2006; 46(2):69-77.
- A novel treatment for ocular tumors using membrane FasL vesicles to activate innate immunity and terminate immune privilege. Invest Ophthalmol Vis Sci. 2005 Jul; 46(7):2495-502.
- Isolated vitreoretinal amyloidosis in the absence of transthyretin mutations. Arch Ophthalmol. 2004 Jan; 122(1):123-5.
- Retinopathy after percutaneous transluminal coronary angioplasty and stent insertion for acute myocardial infarction. Am J Ophthalmol. 2003 Sep; 136(3):557-60.
- Derepression of HMGA2 gene expression in retinoblastoma is associated with cell proliferation. Mol Med. 2003 May-Aug; 9(5-8):154-65.
- Unexpected sensitivity to radiation of fibroblasts from unaffected parents of children with hereditary retinoblastoma. Int J Cancer. 2002 Jun 10; 99(5):764-8.
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