Professor of Ophthalmology, University Mich Medical School
Ophthalmology
Dr. John R. Heckenlively, MD
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John Heckenlively practices Ophthalmology. He went to University of Kentucky College of Medicine. University of Kentucky College of Medicine has a rank of 63 in research and a 72 in primary care He received awards:"America's Top Doctors", "CMS Meaningful Use Stage 1 Certification" and "Fellow (FAAO)". John R. Heckenlively, MD is a published doctor and has 73 publications published. The lastest was: 'Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium.' He is registered with Medicare.
Publications
- Advancing therapeutic strategies for inherited retinal Degeneration: recommendations from the Monaciano Symposium.
- Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
- exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
- Ancestry estimation and control of population stratification for sequence-based association studies.
- The Ophthalmic Experience: Unanticipated Primary Findings in the Era of Next Generation Sequencing.
- Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration.
- Diagnostic fundus autofluorescence patterns in achromatopsia.
- Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
- Genome-wide association study and meta-analysis of intraocular pressure.
- Identification of a rare coding variant in complement 3 associated with age-related Macular degeneration.
- Phenotypic Conservation in Patients With X-Linked Retinitis Pigmentosa Caused by RPGR Mutations.
- Ablation of the x-linked retinitis pigmentosa 2 (rp2) gene in mice results in opsin mislocalization and photoreceptor Degeneration.
- Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
- Seven new loci associated with age-related Macular degeneration.
- 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.
- Clinical phenotypes and prognostic full-field electroretinographic findings in Stargardt disease.
- Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease.
- Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy.
- Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
- Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
- High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population.
- XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina.
- Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.
- Anti-retinal pigment epithelium antibodies in acute exudative polymorphous vitelliform maculopathy: a new hypothesis about disease pathogenesis.
- E2-2 protein and Fuchs's Corneal dystrophy.
- Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor Degeneration in rd11 mice.
- RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
- Peripapillary dark Choroid ring as a helpful diagnostic sign in advanced stargardt disease.
- Controversies of diagnosing autoimmune retinopathy.
- Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.
- Two mouse models for recoverin-associated autoimmune retinopathy.
- Melanoma-associated retinopathy: a paraneoplastic autoimmune complication.
- Detection of retinal metabolic stress resulting from Central serous retinopathy.
- Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
- Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
- Management of autoimmune retinopathies with immunosuppression.
- The need for standardization of antiretinal antibody detection and measurement.
- Rapid, noninvasive detection of diabetes-induced retinal metabolic stress.
- Progress toward personalized medicine for age-related Macular degeneration.
- New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone Degeneration.
- Frequency of anti-retinal antibodies in normal human serum.
- Retinal flavoprotein autofluorescence as a measure of retinal health.
- Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).
- Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
- Molecular testing for hereditary retinal disease as part of clinical care.
- The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.
- CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion.
- Spatial and temporal expression of MFRP and its interaction with CTRP5.
- Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal Degeneration.
- Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2.
- Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.
- Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
- Central serous chorioretinopathy after solid organ transplantation.
- Effective gene therapy with nonintegrating lentiviral vectors.
- Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.
- Genetic factors modifying clinical expression of autosomal dominant RP.
- Senile panretinal cone dysfunction in age-related Macular degeneration (AMD): a report of 52 amd patients compared to age-matched controls.
- Birdshot Chorioretinopathy.
- Sequencing arrays for screening multiple genes associated with early-onset human retinal Degenerations on a high-throughput platform.
- Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies.
- Asteroid hyalosis in an autopsy population: The University of California at Los Angeles (UCLA) experience.
- Retinal Degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
- Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
- CRB1 mutation spectrum in inherited retinal dystrophies.
- Mouse model of subretinal neovascularization with Choroidal anastomosis.
- Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
- Progressive outer retinal necrosis caused by varicella-zoster virus in children with acquired immunodeficiency syndrome.
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
- A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
- Progressive photoreceptor Degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.
- Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.
- Digital Quantification of Goldmann Visual Fields (GVFs) as a Means for Genotype-Phenotype Comparisons and Detection of Progression in Retinal Degenerations.
Schools
Univ Of Co Sch Of Med
University Utah Med Center
University Ky
Jules Stein Eye Institute UCLA
Royal College Of Opth
Wilmer Oph InstJohns Hopki
Procedures Preformed
- Cataract Removal Surgery
- Destruction of Lesion of Retina and Choroid
Conditions Treated
- Age-Related Macular Degeneration
- Anisocoria
- Anterior Ischemic Optic Neuropathy
- Aphakia and Other Disorders of Lens
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Doctors Specialties
- Ophthalmology
Accepted Insurances
Awards
- America's Top Doctors
- CMS Meaningful Use Stage 1 Certification
- Fellow (FAAO)
Education
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David Grant Medical Center -
Johns Hopkins University -
University of Kentucky College of Medicine -
University of Utah -
University of Colorado Denver School of Medicine
Hospital
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University of Michigan Hospitals and Health Centers
Drug Facts
| NPI NUMBER | 1801818901 | |
| NPPES Provider LastName | HECKENLIVELY | |
| NPPES Provider FirstName | JOHN | |
| NPPES Provider ZIPCode | 481051912 | |
| NPPES Provider State | MI | |
| Specialty Description | Ophthalmology | |
| Total Claim Count | 173.0 | |
| Distinct Opioid Count | 0.0 | |
| Opioid Claim Count | 0.0 | |
| Percent Opioid Claims | 0.0 |
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1801818901 |
| Last Name Of The Provider | HECKENLIVELY |
| First Name Of The Provider | JOHN |
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