Search Results - "FISHMAN, Gerald A"

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13 by Small, Kent W., MD, DeLuca, Adam P., PhD, Whitmore, S. Scott, PhD, Rosenberg, Thomas, MD, Silva-Garcia, Rosemary, MD, Udar, Nitin, PhD, Puech, Bernard, MD, Garcia, Charles A., MD, Rice, Thomas A., MD, Fishman, Gerald A., MD, Héon, Elise, MD, Folk, James C., MD, Streb, Luan M., BA, Haas, Christine M., BA, Wiley, Luke A., PhD, Scheetz, Todd E., PhD, Fingert, John H., MD, PhD, Mullins, Robert F., PhD, Tucker, Budd A., PhD, Stone, Edwin M., MD, PhD

“…Purpose To identify specific mutations causing North Carolina macular dystrophy (NCMD). Design Whole-genome sequencing coupled with reverse transcription…”
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Multimodal Imaging of Photoreceptor Structure in Choroideremia by Sun, Lynn W, Johnson, Ryan D, Williams, Vesper, Summerfelt, Phyllis, Dubra, Alfredo, Weinberg, David V, Stepien, Kimberly E, Fishman, Gerald A, Carroll, Joseph

“…Choroideremia is a progressive X-linked recessive dystrophy, characterized by degeneration of the retinal pigment epithelium (RPE), choroid, choriocapillaris,…”
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Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) by Scholl, Hendrik P N, Moore, Anthony T, Koenekoop, Robert K, Wen, Yuquan, Fishman, Gerald A, van den Born, L Ingeborgh, Bittner, Ava, Bowles, Kristen, Fletcher, Emily C, Collison, Frederick T, Dagnelie, Gislin, Degli Eposti, Simona, Michaelides, Michel, Saperstein, David A, Schuchard, Ronald A, Barnes, Claire, Zein, Wadih, Zobor, Ditta, Birch, David G, Mendola, Janine D, Zrenner, Eberhart

“…Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle,…”
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Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics by Cideciyan, Artur V, Aleman, Tomas S, Boye, Sanford L, Schwartz, Sharon B, Kaushal, Shalesh, Roman, Alejandro J, Pang, Ji-jing, Sumaroka, Alexander, Windsor, Elizabeth A.M, Wilson, James M, Flotte, Terence R, Fishman, Gerald A, Heon, Elise, Stone, Edwin M, Byrne, Barry J, Jacobson, Samuel G, Hauswirth, William W

“…The RPE65 gene encodes the isomerase of the retinoid cycle, the enzymatic pathway that underlies mammalian vision. Mutations in RPE65 disrupt the retinoid…”
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Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease by Braun, Terry A, Mullins, Robert F, Wagner, Alex H, Andorf, Jeaneen L, Johnston, Rebecca M, Bakall, Benjamin B, Deluca, Adam P, Fishman, Gerald A, Lam, Byron L, Weleber, Richard G, Cideciyan, Artur V, Jacobson, Samuel G, Sheffield, Val C, Tucker, Budd A, Stone, Edwin M

“…Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in…”
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Analysis of the ABCA4 genomic locus in Stargardt disease by Zernant, Jana, Xie, Yajing Angela, Ayuso, Carmen, Riveiro-Alvarez, Rosa, Lopez-Martinez, Miguel-Angel, Simonelli, Francesca, Testa, Francesco, Gorin, Michael B, Strom, Samuel P, Bertelsen, Mette, Rosenberg, Thomas, Boone, Philip M, Yuan, Bo, Ayyagari, Radha, Nagy, Peter L, Tsang, Stephen H, Gouras, Peter, Collison, Frederick T, Lupski, James R, Fishman, Gerald A, Allikmets, Rando

“…Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the ABCA4 gene. Complete sequencing of ABCA4 in STGD patients identifies…”
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing by Wang, Xia, Wang, Hui, Sun, Vincent, Tuan, Han-Fang, Keser, Vafa, Wang, Keqing, Ren, Huanan, Lopez, Irma, Zaneveld, Jacques E, Siddiqui, Sorath, Bowles, Stephanie, Khan, Ayesha, Salvo, Jason, Jacobson, Samuel G, Iannaccone, Alessandro, Wang, Feng, Birch, David, Heckenlively, John R, Fishman, Gerald A, Traboulsi, Elias I, Li, Yumei, Wheaton, Dianna, Koenekoop, Robert K, Chen, Rui

“…Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are inherited retinal diseases that cause early onset severe visual impairment. An…”
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Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration by Koenekoop, Robert K, Wang, Hui, Majewski, Jacek, Wang, Xia, Lopez, Irma, Ren, Huanan, Chen, Yiyun, Li, Yumei, Fishman, Gerald A, Genead, Mohammed, Schwartzentruber, Jeremy, Solanki, Naimesh, Traboulsi, Elias I, Cheng, Jingliang, Logan, Clare V, McKibbin, Martin, Hayward, Bruce E, Parry, David A, Johnson, Colin A, Nageeb, Mohammed, Poulter, James A, Mohamed, Moin D, Jafri, Hussain, Rashid, Yasmin, Taylor, Graham R, Keser, Vafa, Mardon, Graeme, Xu, Huidan, Inglehearn, Chris F, Fu, Qing, Toomes, Carmel, Chen, Rui

“…Rui Chen and colleagues identify mutations in NMNAT1 as a new cause of Leber congenital amaurosis. They further show that all examined individuals with NMNAT1…”
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Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease by Zernant, Jana, Lee, Winston, Wang, Jun, Goetz, Kerry, Ullah, Ehsan, Nagasaki, Takayuki, Su, Pei-Yin, Fishman, Gerald A, Tsang, Stephen H, Tumminia, Santa J, Brooks, Brian P, Hufnagel, Robert B, Chen, Rui, Allikmets, Rando

“…Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting…”
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Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia by Litts, Katie M., Georgiou, Michalis, Langlo, Christopher S., Patterson, Emily J., Mastey, Rebecca R., Kalitzeos, Angelos, Linderman, Rachel E., Lam, Byron L., Fishman, Gerald A., Pennesi, Mark E., Kay, Christine N., Hauswirth, William W., Michaelides, Michel, Carroll, Joseph

“…Purpose: To determine the interocular symmetry of foveal cone topography in achromatopsia (ACHM) using non-confocal split-detection adaptive optics scanning…”
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Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy by Collison, Frederick T, Fishman, Gerald A, Nagasaki, Takayuki, Zernant, Jana, McAnany, J Jason, Park, Jason C, Allikmets, Rando

“…To define characteristic ocular features in a group of patients with autosomal recessive (AR) PROM1 cone-rod dystrophy (CRD). Three males and one female from…”
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Treatment of cystic macular lesions in hereditary retinal dystrophies by Salvatore, Serena, MD, Fishman, Gerald A., MD, Genead, Mohamed A., MD

“…Abstract Cystic macular lesions frequently contribute to impaired visual acuity in hereditary retinal dystrophies. Their pathogenesis varies and is not…”
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Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes by Zernant, Jana, Lee, Winston, Nagasaki, Takayuki, Collison, Frederick T, Fishman, Gerald A, Bertelsen, Mette, Rosenberg, Thomas, Gouras, Peter, Tsang, Stephen H, Allikmets, Rando

“…Autosomal recessive Stargardt disease (STGD1, MIM 248200) is caused by mutations in the gene. Complete sequencing of the locus in STGD1 patients identifies two…”
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Autoantibodies in melanoma-associated retinopathy target TRPM1 cation channels of retinal ON bipolar cells by Dhingra, Anuradha, Fina, Marie E, Neinstein, Adam, Ramsey, David J, Xu, Ying, Fishman, Gerald A, Alexander, Kenneth R, Qian, Haohua, Peachey, Neal S, Gregg, Ronald G, Vardi, Noga

“…Melanoma-associated retinopathy (MAR) is characterized by night blindness, photopsias, and a selective reduction of the electroretinogram b-wave. In certain…”
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Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa by Walia, Saloni, MD, Fishman, Gerald A., MD, Jacobson, Samuel G., MD, PhD, Aleman, Tomas S., MD, Koenekoop, Robert K., MD, PhD, Traboulsi, Elias I., MD, Weleber, Richard G., MD, Pennesi, Mark E., MD, PhD, Heon, Elise, MD, Drack, Arlene, MD, Lam, Byron L., MD, Allikmets, Rando, PhD, Stone, Edwin M., MD, PhD

“…Purpose To correlate visual acuity of patients with Leber's congenital amaurosis (LCA) and early childhood-onset retinitis pigmentosa (RP) with mutations in…”
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Natural History of Phenotypic Changes in Stargardt Macular Dystrophy by Walia, Saloni, Fishman, Gerald A.

“…Stargardt macular dystrophy is the most common form of juvenile onset macular degeneration. This article reviews the four stages through which this dystrophy…”
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Night Blindness and Abnormal Cone Electroretinogram ON Responses in Patients with Mutations in the GRM6 Gene Encoding mGluR6 by Dryja, Thaddeus P., McGee, Terri L., Berson, Eliot L., Fishman, Gerald A., Sandberg, Michael A., Alexander, Kenneth R., Derlacki, Deborah J., Rajagopalan, Aruna S.

“…We report three unrelated patients with mutations in the GRM6 gene that normally encodes the glutamate receptor mGluR6. This neurotransmitter receptor has been…”
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Assessing Retinal Structure in Complete Congenital Stationary Night Blindness and Oguchi Disease by Godara, Pooja, Cooper, Robert F, Sergouniotis, Panagiotis I, Diederichs, Melissa A, Streb, Megan R, Genead, Mohamed A, McAnany, J. Jason, Webster, Andrew R, Moore, Anthony T, Dubis, Adam M, Neitz, Maureen, Dubra, Alfredo, Stone, Edwin M, Fishman, Gerald A, Han, Dennis P, Michaelides, Michel, Carroll, Joseph

“…Purpose To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night…”
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A historical perspective on the early treatment of night blindness and the use of dubious and unproven treatment strategies for patients with retinitis pigmentosa by Fishman, Gerald A., MD

“…Abstract Retinitis pigmentosa (RP) is a form of inherited night blindness. Over decades, various dubious treatment strategies that lacked sufficient…”
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Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients by Kinnick, Tyson R, Mullins, Robert F, Dev, Sundeep, Leys, Monique, Mackey, David A, Kay, Christine N, Lam, Byron L, Fishman, Gerald A, Traboulsi, Elias, Iezzi, Raymond, Stone, Edwin M

“…To report 11 cases of autosomal recessive vitelliform macular dystrophy and to compare their molecular findings and phenotypic characteristics with those of…”
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