Dr. John Heckenlively

John R. Heckenlively, MD

Paul R. Lichter Professor of Ophthalmic Genetics
Professor, Ophthalmology and Visual Sciences
Director, Center for Retinal and Macular Degeneration
Academic Office: 734-936-9547

Areas of Interest

Research Summary

Hereditary retinal disorders, autoimmune retinopathies, ophthalmic genetics and electrodiagnostics

The Heckenlively research laboratory focuses on the investigation of retinal degenerations. We have a number of ongoing projects that include:  

Basic research activities:

  • Mutational analysis in retinitis pigmentosa and retinal dystrophy patients to identify the underlying causes by DNA candidate gene and family studies. As part of the Foundation Fighting Blindness retinal degeneration center, we have an investigational module for clinical and electrophysiological studies, including mutational analysis for our retinal dystrophy patients. We collaborate with other Kellogg Eye Center scientists investigating X-linked retinitis pigmentosa; the group looks at mechanisms and effects of XL-RP in mouse and human, performs interventional therapeutic studies in mouse models of retinal degeneration, and uses pharmacologic, progenitor cell, and anti-apoptotic methodology. We also have extensive collaborations with molecular genetic scientists around the country for sharing DNA or mouse retina samples of interest to their laboratories.
  • Through hypothesis-driven clinical methodologies, we have been screening mouse colonies and inbred strains at the Jackson Laboratory (Bar Harbor, ME) for mouse models of human hereditary retinal diseases (NEI/NIH grant, Bo Chang, MD, JAX Co-PI). This effort includes gene identification for the diseases, investigation of the natural history and features of the phenotype with clinical and molecular techniques, electrophysiological evaluations, and histology. To date, the project has found over 110 different genetic mouse eye models for human ocular diseases. In a number of diseases, we found the gene first in mouse, which was then validated as the underlying disease gene in the human condition.
  • Investigation of the genetic causes or contributions to age-related macular degeneration (AMD) by SNP-based association studies, and studies of mitochondria-associated genes in AMD patients and age-matched normal controls. Our project has enrolled over 3000 seniors in this study. Dr. Anand Swaroop, now at NIH, initiated this research effort and continues to consult for this project.
  • Investigations of autoimmune retinopathy, a pan-retinal degenerative process that can mimic retinitis pigmentosa. We established a diagnostic and investigational autoimmune laboratory that performs high quality immunologic and proteomic analysis for anti-retinal antibodies with identification of known antigenic retinal proteins. In addition, we have been able to establish two different mouse models for autoimmune retinopathy that will allow for the investigation of specific retinal antigens and their immunologic effects on the retina.

Clinical Interests

Diagnosis and treatment of inherited eye diseases, including cone dystrophy, retinitis pigmentosa, and macular degeneration; unusual retinal dystrophies; clinical electrophysiology of vision; autoimmune retinopathy

Subspecialty: Retina

Clinical activities:

  • Retinal dystrophy clinic. Patients are seen on referral for evaluation of hereditary retinal diseases such as retinitis pigmentosa (RP), cone and cone–rod dystrophy, Stargardt’s disease, retinoschisis, and congenital stationary night blindness. 
  • Inflammatory (autoimmune) retinal disease clinic. Because autoimmune retinopathy can look like RP, and similar techniques are used to evaluate patients with autoimmune disease and some inflammatory retinal diseases, we have established a retinal inflammatory disease service to assist in diagnosing and treating these conditions. Currently our research efforts have identified four subgroups of autoimmune retinopathy: cancer-associated retinopathy, melanoma-associated retinopathy, non-paraneoplastic retinopathy, and RP patients with cystoid macular edema. Most have treatable aspects, particularly if caught early. Susan Elner, MD, continues to evaluate and treat uveitis patients with granulomatous inflammatory ocular diseases in a separate clinic. 
  • Diagnostic Visual Electrophysiology Service. Under the direction of Dr. Naheed Khan, visual physiologic diagnostic testing is performed by appointment; electroretinography, electro-oculography, kinetic visual fields, color vision testing, multifocal electroretinograms, and other specialized testing is available to assist in establishing an understanding of each patient’s ophthalmologic diagnosis. This laboratory is used extensively in conducting clinical trials and research. More information on the Diagnostic Visual Electrophysiology Service can be found here.

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  • Medical School - University of Colorado, 1972
  • Residency - Ophthalmology, University of Kentucky, 1976
  • Fellowships
    • Vitreo-Retinal Diseases, Jules Stein Eye Institute, University of California, Los Angeles, 1977
    • Ophthalmic Genetics, Wilmer Eye Institute, Johns Hopkins University, 1978

Published Articles or Reviews

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