John R. Heckenlively, M.D.
Publications

Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, Jagle H, Kohl S, Wissinger B, Koch KW. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat 2009 [Epub ahead of print].

Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Granse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Goring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andreasson S, Swaroop A. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet 2009;84:792-800.

Field MG, Elner VM, Park S, Hackel R, Heckenlively JR, Elner SG, Petty HR. Detection of Retinal Metabolic Stress Resulting from Central Serous Retinopathy. Retina 2009 [Epub ahead of print].

Ferreyra HA, Jayasundera T, Khan NW, He S, Lu Y, Heckenlively JR. Management of autoimmune retinopathies with immunosuppression. Arch Ophthalmol 2009;127:390-397.

Chang B, Mandal MN, Chavali VR, Hawes NL, Khan NW, Hurd RE, Smith RS, Davisson ML, Kopplin L, Klein BE, Klein R, Iyengar SK, Heckenlively JR, Ayyagari R. Age-related retinal degeneration (arrd2) in a novel mouse model due to a nonsense mutation in the Mdm1 gene. Hum Mol Genet 2008;17:3929-3941. Epub 2008 Sep 18.

Forooghian F, Macdonald IM, Heckenlively JR, Heon E, Gordon LK, Hooks JJ, Detrick B, Nussenblatt RB. The need for standardization of antiretinal antibody detection and measurement. Am J Ophthalmol 2008;146:489-495. Epub 2008 Jul 30.

Field MG, Elner VM, Puro DG, Feuerman JM, Musch DC, Pop-Busui R, Hackel R, Heckenlively JR, Petty HR. Rapid, noninvasive detection of diabetes-induced retinal metabolic stress. Arch Ophthalmol 2008;126:934-938.

Moroi SE, Heckenlively JR. Progress toward personalized medicine for age-related macular degeneration. Ophthalmology 2008;115:925-926.

Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. Mol Vis 2008;14:922-927.

Heckenlively JR, Ferreyra HA. Autoimmune retinopathy: A review and summary. Semin Immunopathol 2008;30:127-134.

Small KW, Silva-Garcia R, Udar N, Nguyen EV, Heckenlively JR. New mutation, P575L, in the GUCY2D gene in a family With autosomal dominant progressive cone degeneration. Arch Ophthalmol 2008;126:397-403.

Shimazaki K, Jirawuthiworavong GV, Heckenlively JR, Gordon LK. Frequency of anti-retinal antibodies in normal human serum. J Neuroophthalmol 2008;28:5-11.

Daiger SP, Sullivan LS, Gire AI, Birch DG, Heckenlively JR, Bowne SJ. Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol 2008;613:203-209.

Gire AI, Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol Vis 2007;13:1970-1975.

Chang B, Hawes NL, Pardue MT, German AM, Hurd RE, Davisson MT, Nusinowitz S, Rengarajan K, Boyd AP, Sidney SS, Phillips MJ, Stewart RE, Chaudhury R, Nickerson JM, Heckenlively JR, Boatright JH. Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene. Vision Res 2007;47:624-633. Epub 2007 Jan 30.

Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol 2007;125:252-258.

Chang B, Hawes NL, Davisson MT, Heckenlively JR. Mouse models of RP. In: Tombran-Tink J, Barnstable CJ, eds. Retinal Degenerations: Biology, Diagnostics, and Therapeutics. Totowa, NJ:Humana Press; 2007.

Ronan S, Nusinowitz S, Swaroop A, Heckenlively JR. Senile panretinal cone dysfunction in age-related macular degeneration (AMD): a Report of 52 AMD patients compared to age-matched controls. Trans Am Ophthalmol Soc 2006;104:232-240.

Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andreasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet 2006;79:1059-1070.

Mandal MN, Vasireddy V, Jablonski MM, Wang X, Heckenlively JR, Hughes BA, Reddy GB, Ayyagari R. Spatial and temporal expression of MFRP and its interaction with CTRP5. Invest Ophthalmol Vis Sci 2006;47:5514-5521.

Mandal MN, Vasireddy V, Reddy GB, Wang X, Moroi SE, Pattnaik BR, Hughes BA, Heckenlively JR, Hitchcock PF, Jablonski MM, Ayyagari R. CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion. Invest Ophthalmol Vis Sci 2006;47:5505-5513.

Chang B, Dacey MS, Hawes NL, Hitchcock PF, Milam AH, Atmaca-Sonmez P, Nusinowitz S, Heckenlively JR. Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci 2006;47:5017-5021.

Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2006;47:4579-4588.

Nusinowitz S, Ridder WH 3rd, Pang JJ, Chang B, Noorwez SM, Kaushal S, Hauswirth WW, Heckenlively JR. Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function. Vision Res 2006;46:3926-3934.

Nathan J, Reh R, Ankoudinova I, Ankoudinova G, Chang B, Heckenlively J, Hurley JB. Scotopic and Photopic Visual Thresholds and Spatial and Temporal Discrimination Evaluated by Behavior of Mice in a Water Maze. Photochem Photobiol 2006; [Epub ahead of print].

Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Prevalence of disease-causing mutations in families with Autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 2006;47:3052-3064.

Chang B, Khanna H, Hawes N, et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 2006;15:1847-57.

Rakoczy PE, Yu MJ, Nusinowitz S, Chang B, Heckenlively JR. Mouse models of age-related macular degeneration. Exp Eye Res 2006;82:741-752.

Fawzi AA, Holland GN, Kreiger AE, et al. Central serous chorioretinopathy after solid organ transplantation. Ophthalmology 2006;113:813.e1-5.

Yanez-Munoz RJ, Balaggan KS, MacNeil A, et al. Effective gene therapy with nonintegrating lentiviral vectors. Nat Med 2006;12:348-353.

Daiger SP, Shankar SP, Schindler AB, et al. Genetic factors modifying clinical expression of autosomal dominant RP. Adv Exp Med Biol 2006;572:3-8.

Bowne SJ, Sullivan LS, Mortimer SE, et al. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006;47:34-42.

Chang B, Heckenlively JR, Bayley PR, et al. The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci 2006;23:11-24.

Thompson DA, Janecke AR, Lange J, et al. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet 2005;14:3865-3875.

Shah KH, Levinson RD, Yu F, et al. Birdshot chorioretinopathy. Surv Ophthalmol 2005;50:519-541.

Linberg KA, Fariss RN, Heckenlively JR, Farber DB, Fisher SK. Morphological characterization of the retinal degeneration in three strains of mice carrying the rd-3 mutation. Vis Neurosci 2005;22:721-734.

Mandal MNA, Heckenlively JR, Burch T, et al. Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. Invest Ophthalmol Vis Sci 2005;46:3355-3362

Chang B, Hawes NL, Hurd RE, Wang J, Howell D, Davisson MT, Roderick TH, Nusinowitz S, Heckenlively JR. Mouse models of ocular diseases. Vis Neurosci 2005;22:587-593.

van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. Novel types of mutation in the choroideremia (CHM) gene; a full-length L1 insertion and an intronic mutation activating a cryptic exon. Hum Genet 2003;113:268-275.

Heckenlively JR, Hawes NL, Friedlander M, Nusinowitz S, Chang B. A mouse model of subretinal neovasculariztion with choroidal anastomosis. Retina 2003;23:518-522.

Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, Atkins K, Azimi A, Daiger SP, Farber DB, Heckenlively JR, Pierce EA, Sullivan LS, Zuo J. Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proc Natl Acad Sci(USA) 2002;99:5698-5703.

Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nature Genetics 2002;31:435-438.

Tzekov R, Liu Y, Sohocki M, Zack D, Daiger S, Heckenlively J, Birch D. Autosomal dominant retinal degeneration and bone loss in patients with a 12 bp deletion in the CRX gene. IOVS 2001;42:319-327.

den Hollander A, Heckenlively J, van den Born I, de Kok Y, van der Velde-Vissner S, Kellner U, Jurklies B, van Schooneveld M, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg J, Deutman A, Bruner H, Apfelstedt-Sylla E, Hoyng C, Cremers F. Leber's congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue1 (CRB1) gene. Am J Hum Gen 2001;69:198-203.

Akhmedov N, Piriev N, Chang B, Rappoport A, Hawes N, Nishina P, Nusinowitz S, Heckenlively J, Roderick T, Kozak C, Danciger M, Davisson M, Farber D. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci(USA) 2000;9;97:5551-5556.

Sligh J, Levy S, Waymire K, Allard P, Dillehay D, Nusinowitz S, Heckenlively J, MacGregor G, Wallace D. Maternal germ-line transmission of mutant mtDNA's from embryonic stem cell-derived chimeric mice. Proc Natl Acad Sci (USA) 2000;97:14461-14466.

Heckenlively J, Jordan B, Aptsiauri N. An association of antiretinal antibodies and cystoid macular edema in retinitis pigmentosa patients. Am J Ophthalmol 1999;127:565-578.

den Hollander A, den Brink J, de Kok Y van Soest S, van Den Born L, van Driel M, van de Pol D, Payne A, Bhattacharya S, Kellner U, Hoyng C, Westerveld A, Brunner H, Bleeker-Wagemakers E, Deutman A, Heckenlively J, Cremers F, Bergen A. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nature Genetics 1999;23:217-221.

John S, Smith R, Savinova O, Hawes N, Chang B, Turnbull D, Davisson M, Roderick T, Heckenlively J. Essential iris atrophy, pigment dispersion, and glaucoma in DBA/2J mice. IOVS 1998;39:951-962.

Roderick T, Chang B, Hawes N, Heckenlively J. A new dominant retinal degeneration (Rd4) associated with a chromosomal inversion in the mouse. Genomics 1997;42:393-396.

Heckenlively JR, Aptsiauri N, Nusinowitz S, Peng C, Hargrave S. Investigations of antiretinal antibodies in pigmentary retinopathy and other retinal degenerations. Trans AOS 1996;94:179-206.

Heckenlively JR, Chang B, Erway L, Peng C, Hawes N, Hageman G, Roderick T. Mouse model for Usher syndrome: linkage mapping suggests homology to usher type I reported at human chromosome 11p15. Proc Natl Acad Sci(USA) 1995;92:11100-11104.

Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Ophthalmology 1994;101:1409-1421.

Heckenlively JR, Tanji T, Logani S. Retrospective study of hyperabnormal (supranormal) electroretinographic responses in 104 patients. Trans AOS 1994;92:217-233.