Works matching DE "NIGHT blindness"

Results: 93

Gyrus atrophy of the choroid and retina. A case presentation.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2023, n. 2, p. 63, doi. 10.31288/oftalmolzh202326364

By:

Garduño-Vieyra, Leopoldo;
Rua Martinez, Raul;
Rodríguez Mena, Natalia;
Villalobos Alonso, Gladys Amanda

Publication type:

Article

Night blindness, diet and health in Nepalese children: An ethno‐epidemiological investigation of local beliefs.

Published in:

Ecology of Food & Nutrition, 2000, v. 39, n. 3, p. 199, doi. 10.1080/03670244.2000.9991615

By:

Shankar, Anita V.;
Gittelsohn, Joel;
Pradhan, Rajendra;
Dahal, Birendra;
West, Keith P.

Publication type:

Article

Prevalence of Vitamin A deficiency among school going children of Jasra block of Allahabad, India.

Published in:

Journal of Applied & Natural Science, 2018, v. 10, n. 1, p. 4, doi. 10.31018/jans.v10i1.1568

By:

Richa, Kumari;
Alka, Gupta;
Ranu, Prasad;
Jaya, Tripathi

Publication type:

Article

Onchocerciasis as a Risk Factor for Night Blindness.

Published in:

Ophthalmic Epidemiology, 2012, v. 19, n. 4, p. 204, doi. 10.3109/09286586.2012.680529

By:

Babalola, O. E.

Publication type:

Article

HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient.

Published in:

2016

By:

Baddar, Dina;
Goldstein, Debra A.

Publication type:

Case Study

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

Published in:

Genes, 2021, v. 12, n. 2, p. 171, doi. 10.3390/genes12020171

By:

Mahmood, Usman;
Méjécase, Cécile;
Ali, Syed M. A.;
Moosajee, Mariya;
Kozak, Igor;
Sieving, Paul A.

Publication type:

Article

Xerophthalmia in a Traditional Quran Boarding School in Sudan.

Published in:

Middle East African Journal of Ophthalmology, 2012, v. 19, n. 2, p. 190, doi. 10.4103/0974-9233.95247

By:

Kheir, Abdelmoneim E. M.;
Dirar, Tarig O. M. O.;
Elhassan, Haifa O. M.;
Elshikh, Maha A. H.;
Ahmed, Mohamed B. M.;
Abbass, Mohammed A.;
Idris, Salma S.

Publication type:

Article

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0324-6

By:

Siying Liang;
Nan Jiang;
Shuo Li;
Xiaohu Jiang;
Dongyi Yu

Publication type:

Article

Ocular Fundus Imaging for the Diagnosis of Progressive Retinal Atrophy - A Study in 31 Dogs.

Published in:

Intas Polivet, 2016, v. 17, n. 2, p. 426

By:

Kelawala, D. N.;
Patil, D. B.;
Sini, K. R.;
Parikh, P. V.;
Parulekar, E. A.

Publication type:

Article

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.

Published in:

2018

By:

Skorczyk-Werner, Anna;
Wawrocka, Anna;
Kochalska, Natalia;
Krawczynski, Maciej Robert

Publication type:

journal article

Retinoids as chemopreventive agents.

Published in:

2016

By:

Kaur, Sandeep

Publication type:

journal article

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0100-8

By:

Nadeem, Raheela;
Kabir, Firoz;
Li, Jiali;
Gradstein, Libe;
Jiao, Xiaodong;
Rauf, Bushra;
Naeem, Muhammad Asif;
Assir, Muhammad Zaman;
Riazuddin, Sheikh;
Ayyagari, Radha;
Hejtmancik, J. Fielding;
Riazuddin, S. Amer

Publication type:

Article

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0076-4

By:

Hirsch, Yoel;
Zeevi, David A.;
Lam, Byron L.;
Scher, Sholem Y.;
Bringer, Rachel;
Cherki, Bitya;
Cohen, Cadina C.;
Muallem, Hagit;
Chiang, John (Pei-Wen);
Pantrangi, Madhulatha;
Ekstein, Josef;
Johansson, Martin M.

Publication type:

Article

A Case Report of Vogt's Limbal Girdle and Retinitis Pigmentosa in a Thirteen-Year-Old Boy: A Rare and Unusual Association.

Published in:

Case Reports in Ophthalmology, 2015, v. 6, n. 3, p. 311, doi. 10.1159/000439265

By:

Vignesh, A.P.;
Srinivasan, Renuka;
Karanth, Swathi;
Vijitha, Sai

Publication type:

Article

A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0095768

By:

Manes, Gaël;
Cheguru, Pallavi;
Majumder, Anurima;
Bocquet, Béatrice;
Sénéchal, Audrey;
Artemyev, Nikolai O.;
Hamel, Christian P.;
Brabet, Philippe

Publication type:

Article

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB).

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090342

By:

Neuillé, Marion;
El Shamieh, Said;
Orhan, Elise;
Michiels, Christelle;
Antonio, Aline;
Lancelot, Marie-Elise;
Condroyer, Christel;
Bujakowska, Kinga;
Poch, Olivier;
Sahel, José-Alain;
Audo, Isabelle;
Zeitz, Christina

Publication type:

Article

Photoreceptor Degeneration in Two Mouse Models for Congenital Stationary Night Blindness Type 2.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086769

By:

Regus-Leidig, Hanna;
Atorf, Jenny;
Feigenspan, Andreas;
Kremers, Jan;
Maw, Marion A.;
Brandstätter, Johann Helmut

Publication type:

Article

Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0078280

By:

Bellone, Rebecca R.;
Holl, Heather;
Setaluri, Vijayasaradhi;
Devi, Sulochana;
Maddodi, Nityanand;
Archer, Sheila;
Sandmeyer, Lynne;
Ludwig, Arne;
Foerster, Daniel;
Pruvost, Melanie;
Reissmann, Monika;
Bortfeldt, Ralf;
Adelson, David L.;
Lim, Sim Lin;
Nelson, Janelle;
Haase, Bianca;
Engensteiner, Martina;
Leeb, Tosso;
Forsyth, George;
Mienaltowski, Michael J.

Publication type:

Article

Assessment of Night Vision Problems in Patients with Congenital Stationary Night Blindness

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0062927

By:

Bijveld, Mieke M. C.;
van Genderen, Maria M.;
Hoeben, Frank P.;
Katzin, Amir A.;
van Nispen, Ruth M. A.;
Riemslag, Frans C. C.;
Kappers, Astrid M. L.

Publication type:

Article

AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models

Published in:

PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0061396

By:

Vasireddy, Vidyullatha;
Mills, Jason A.;
Gaddameedi, Rajashekhar;
Basner-Tschakarjan, Etiena;
Kohnke, Monika;
Black, Aaron D.;
Alexandrov, Krill;
Zhou, Shangzhen;
Maguire, Albert M.;
Chung, Daniel C.;
Mac, Helen;
Sullivan, Lisa;
Gadue, Paul;
Bennicelli, Jeannette L.;
French, Deborah L.;
Bennett, Jean

Publication type:

Article

Topological Analysis of Small Leucine-Rich Repeat Proteoglycan Nyctalopin.

Published in:

PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0033137

By:

Bojang,Jr., Pasano;
Gregg, Ronald G.

Publication type:

Article

Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.

Published in:

Eye (0950-222X), 2012, v. 26, n. 9, p. 1278, doi. 10.1038/eye.2012.125

By:

Vincent, A;
Héon, E

Publication type:

Article

Extensive Macular Atrophy with Pseudodrusen Imaged with OCT Angiography.

Published in:

2018

By:

Kovach, Jaclyn L.

Publication type:

Case Study

Smart Night-Vision Glasses with AI and Sensor Technology for Night Blindness and Retinitis Pigmentosa.

Published in:

International Journal of Advanced Computer Science & Applications, 2025, v. 16, n. 2, p. 962, doi. 10.14569/ijacsa.2025.0160295

By:

Qazi, Shaheer Hussain;
Batumalay, M.

Publication type:

Article

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 690, doi. 10.1111/cge.12746

By:

Neuillé, M.;
Malaichamy, S.;
Vadalà, M.;
Michiels, C.;
Condroyer, C.;
Sachidanandam, R.;
Srilekha, S.;
Arokiasamy, T.;
Letexier, M.;
Démontant, V.;
Sahel, J.‐A.;
Sen, P.;
Audo, I.;
Soumittra, N.;
Zeitz, C.

Publication type:

Article

RIM1/2-Mediated Facilitation of Cav1.4 Channel Opening Is Required for Ca2+-Stimulated Release in Mouse Rod Photoreceptors.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 38, p. 13133, doi. 10.1523/JNEUROSCI.0658-15.2015

By:

Grabner, Chad P.;
Gandini, Maria A.;
Rehak, Renata;
Yun Le;
Zamponi, Gerald W.;
Schmitz, Frank

Publication type:

Article

GPR179 Is Required for High Sensitivity of the mGluR6 Signaling Cascade in Depolarizing Bipolar Cells.

Published in:

Journal of Neuroscience, 2014, v. 34, n. 18, p. 6334, doi. 10.1523/JNEUROSCI.4044-13.2014

By:

Ray, Thomas A.;
Heath, Kathryn M.;
Hasan, Nazarul;
Noel, Jennifer M.;
Samuels, Ivy S.;
Martemyanov, Kirill A.;
Peachey, Neal S.;
McCall, Maureen A.;
Gregg, Ronald G.

Publication type:

Article

Gβ3 Is Required for Normal Light ON Responses and Synaptic Maintenance.

Published in:

Journal of Neuroscience, 2012, v. 32, n. 33, p. 11343, doi. 10.1523/JNEUROSCI.1436-12.2012

By:

Dhingra, Anuradha;
Ramakrishnan, Hariharasubramanian;
Neinstein, Adam;
Fina, Marie E.;
Ying Xu;
Jian Li;
Chung, Daniel C.;
Lyubarsky, Arkady;
Vardi, Noga

Publication type:

Article

Conservation of pitcher plant.

Published in:

Current Science (00113891), 2012, v. 102, n. 3, p. 381

By:

Bokolial, Devajyoti;
Syiemlieh, S. M.;
Rao, C. S.

Publication type:

Article

Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs?

Published in:

Documenta Ophthalmologica, 2018, v. 137, n. 2, p. 87, doi. 10.1007/s10633-018-9653-y

By:

Oh, Annie;
Loew, Ellis R.;
Foster, Melanie L.;
Davidson, Michael G.;
English, Robert V.;
Gervais, Kristen J.;
Herring, Ian P.;
Mowat, Freya M.

Publication type:

Article

Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.

Published in:

Documenta Ophthalmologica, 2018, v. 137, n. 1, p. 57, doi. 10.1007/s10633-018-9651-0

By:

Marmor, Michael F.;
Zeitz, Christina

Publication type:

Article

ISCEV extended protocol for the photopic On-Off ERG.

Published in:

Documenta Ophthalmologica, 2018, v. 136, n. 3, p. 199, doi. 10.1007/s10633-018-9645-y

By:

Sustar, Maja;
Holder, Graham E.;
Kremers, Jan;
Barnes, Claire S.;
Lei, Bo;
Khan, Naheed W.;
Robson, Anthony G.

Publication type:

Article

Phenotypic expansion and progression of <italic>SPATA7</italic>-associated retinitis pigmentosa.

Published in:

2018

By:

Sengillo, Jesse D.;
Lee, Winston;
Bilancia, Colleen G.;
Jobanputra, Vaidehi;
Tsang, Stephen H.

Publication type:

Case Study

Recurrent episodes of night blindness in a patient with short bowel syndrome.

Published in:

Documenta Ophthalmologica, 2015, v. 131, n. 3, p. 221, doi. 10.1007/s10633-015-9516-8

By:

Renner, Agnes;
Dietrich-Ntoukas, Tina;
Jägle, Herbert

Publication type:

Article

Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.

Published in:

Documenta Ophthalmologica, 2015, v. 131, n. 1, p. 71, doi. 10.1007/s10633-015-9497-7

By:

Kuniyoshi, Kazuki;
Sakuramoto, Hiroyuki;
Yoshitake, Kazutoshi;
Ikeo, Kazuho;
Furuno, Masaaki;
Tsunoda, Kazushige;
Kusaka, Shunji;
Shimomura, Yoshikazu;
Iwata, Takeshi

Publication type:

Article

Electrophysiological and microperimetry changes in vitamin A deficiency retinopathy.

Published in:

Documenta Ophthalmologica, 2015, v. 130, n. 3, p. 231, doi. 10.1007/s10633-015-9484-z

By:

Saker, Saker;
Morales, Marco;
Jhittay, Harsimar;
Wen, Yaqin;
Amoaku, Winfried

Publication type:

Article

Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications.

Published in:

Documenta Ophthalmologica, 2014, v. 129, n. 1, p. 9, doi. 10.1007/s10633-014-9446-x

By:

Garon, M.-L.;
Dorfman, A.;
Racine, J.;
Koenekoop, R.;
Little, J.;
Lachapelle, P.

Publication type:

Article

Editor's comment.

Published in:

2013

By:

Brodie, Scott

Publication type:

Editorial

Xerophthalmia and acquired night blindness in a patient with a history of gastrointestinal neoplasia and normal serum vitamin A levels.

Published in:

Documenta Ophthalmologica, 2013, v. 126, n. 2, p. 159, doi. 10.1007/s10633-012-9370-x

By:

Anastasakis, Anastasios;
Plainis, Sotiris;
Giannakopoulou, Trisevgeni;
Papadimitraki, Elisavet;
Fanouriakis, Charalambos;
Tsilimbaris, Miltiadis

Publication type:

Article

Negative electroretinograms in the pediatric and adult population.

Published in:

Documenta Ophthalmologica, 2012, v. 124, n. 1, p. 41, doi. 10.1007/s10633-011-9301-2

By:

Kim, Johnstone;
Payne, John;
Yan, Jiong;
Barnes, Claire

Publication type:

Article

Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 10, p. 1951, doi. 10.1007/s00417-016-3346-6

By:

Oreany, Abdulaziz;
Hadlaq, Abdulaziz;
Schatz, Patrik

Publication type:

Article

Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.

Published in:

Scientific Reports, 2015, p. 12679, doi. 10.1038/srep12679

By:

Dai, Shuzhen;
Ying, Ming;
Wang, Kai;
Wang, Liming;
Han, Ruifang;
Hao, Peng;
Li, Ningdong

Publication type:

Article

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.

Published in:

2016

By:

Méjécase, Cécile;
Laurent-Coriat, Caroline;
Mayer, Claudine;
Poch, Olivier;
Mohand-Saïd, Saddek;
Prévot, Camille;
Antonio, Aline;
Boyard, Fiona;
Condroyer, Christel;
Michiels, Christelle;
Blanchard, Steven;
Letexier, Mélanie;
Saraiva, Jean-Paul;
Sahel, José-Alain;
Audo, Isabelle;
Zeitz, Christina

Publication type:

Case Study

DEFINING MOMENTS.

Published in:: Phi Kappa Phi Forum, 2020, v. 100, n. 1, p. 3
Publication type:: Article

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 344, doi. 10.1002/mgg3.208

By:

Freund, Paul R.;
Sergeev, Yuri V.;
MacDonald, Ian M.

Publication type:

Article

Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits.

Published in:

2017

By:

Raoof, Naz;
Vincent, Andrea L

Publication type:

Case Study

Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-75902-z

By:

Kim, You Na;
Song, Joon Seon;
Oh, Seak Hee;
Kim, Yoon Jeon;
Yoon, Young Hee;
Seo, Eul-Ju;
Seol, Chang Ahn;
Lee, Sae-Mi;
Choi, Jong-Moon;
Seo, Go Hun;
Keum, Changwon;
Lee, Beom Hee;
Lee, Joo Yong

Publication type:

Article

Night Blindness and Ancient Remedy.

Published in:

Heart Views, 2014, v. 15, n. 4, p. 136, doi. 10.4103/1995-705X.151098

By:

Al Binali, H. A. Hajar

Publication type:

Article

Multiple congenital ocular anomalies and the silver dapple gene.

Published in:

Equine Veterinary Education, 2013, v. 25, n. 11, p. 556, doi. 10.1111/eve.12099

By:

Matthews, A. G.

Publication type:

Article

Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness.

Published in:

Clinical Ophthalmology, 2016, v. 10, p. 1593, doi. 10.2147/OPTH.S99593

By:

Cammack, Jocelyn;
Whight, John;
Cross, Vinette;
Rider, Andrew T.;
Webster, Andrew R.;
Stockman, Andrew

Publication type:

Article