A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia von Kohl, Susanne, Coppieters, Frauke, Meire, Françoise, Schaich, Simone, Roosing, Susanne, Brennenstuhl, Christina, Bolz, Sylvia, van Genderen, Maria M., Riemslag, Frans C.C., Lukowski, Robert, den Hollander, Anneke I., Cremers, Frans P.M., De Baere, Elfride, Hoyng, Carel B., Wissinger, Bernd

Volltext

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies von Nguyen, Xuan-Thanh-An, Moekotte, Lude, Plomp, Astrid S, Bergen, Arthur A, van Genderen, Maria M, Boon, Camiel J F

Volltext

X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients von Hahn, Leo C, van Schooneveld, Mary J, Wesseling, Nieneke L, Florijn, Ralph J, Ten Brink, Jacoline B, Lissenberg-Witte, Birgit I, Strubbe, Ine, Meester-Smoor, Magda A, Thiadens, Alberta A, Diederen, Roselie M, van Cauwenbergh, Caroline, de Zaeytijd, Julie, Walraedt, Sophie, de Baere, Elfride, Klaver, Caroline C W, Ossewaarde-van Norel, Jeannette, van den Born, L Ingeborgh, Hoyng, Carel B, van Genderen, Maria M, Sieving, Paul A, Leroy, Bart P, Bergen, Arthur A, Boon, Camiel J F

Volltext

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism von Poulter, James A., Al-Araimi, Musallam, Conte, Ivan, van Genderen, Maria M., Sheridan, Eamonn, Carr, Ian M., Parry, David A., Shires, Mike, Carrella, Sabrina, Bradbury, John, Khan, Kamron, Lakeman, Phillis, Sergouniotis, Panagiotis I., Webster, Andrew R., Moore, Anthony T., Pal, Bishwanath, Mohamed, Moin D., Venkataramana, Anandula, Ramprasad, Vedam, Shetty, Rohit, Saktivel, Murugan, Kumaramanickavel, Govindasamy, Tan, Alex, Mackey, David A., Hewitt, Alex W., Banfi, Sandro, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel

Volltext

Electroretinogram abnormalities in nonanterior childhood uveitis von Brouwer, Anna H., Genderen, Maria. M., Wit, Gerard C., Boer, Joke H.

Volltext

Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness von Bijveld, Mieke M.C., MSc, Florijn, Ralph J., PhD, Bergen, Arthur A.B., PhD, van den Born, L. Ingeborgh, MD, PhD, Kamermans, Maarten, PhD, Prick, Liesbeth, MD, PhD, Riemslag, Frans C.C., PhD, van Schooneveld, Mary J., MD, PhD, Kappers, Astrid M.L., PhD, van Genderen, Maria M., MD, PhD

Volltext

GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness von Peachey, Neal S., Ray, Thomas A., Florijn, Ralph, Rowe, Lucy B., Sjoerdsma, Trijntje, Contreras-Alcantara, Susana, Baba, Kenkichi, Tosini, Gianluca, Pozdeyev, Nikita, Iuvone, P. Michael, Bojang, Pasano, Pearring, Jillian N., Simonsz, Huibert Jan, van Genderen, Maria, Birch, David G., Traboulsi, Elias I., Dorfman, Allison, Lopez, Irma, Ren, Huanan, Goldberg, Andrew F.X., Nishina, Patsy M., Lachapelle, Pierre, McCall, Maureen A., Koenekoop, Robert K., Bergen, Arthur A.B., Kamermans, Maarten, Gregg, Ronald G.

Volltext

Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis von Hettinga, Ymkje M., MD, van Genderen, Maria M., MD, PhD, Wieringa, Wietse, MPA, Ossewaarde-van Norel, Jeannette, MD, PhD, de Boer, Joke H., MD, PhD

Volltext

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy von de Muijnck, Cansu, Haer-Wigman, Lonneke, van Everdingen, Judith A. M., Lushchyk, Tanya, Heutinck, Pam A. T., van Dooren, Marieke F., Kievit, Anneke J. A., Verhoeven, Virginie J. M., Simon, Marleen E. H., Wasmann, Rosemarie A., Notting, Irene C., De Baere, Elfride, Walraedt, Sophie, De Zaeytijd, Julie, Van den Broeck, Filip, Leroy, Bart P., Boon, Camiel J. F., van Genderen, Maria M.

Volltext

Assessment of night vision problems in patients with congenital stationary night blindness von 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

Volltext

In childhood, a different electrode placement improves the recording of pattern reversal visual evoked potentials von Genderen, Maria M.

Volltext

Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness von van Genderen, Maria M., Bijveld, Mieke M.C., Claassen, Yvonne B., Florijn, Ralph J., Pearring, Jillian N., Meire, Francoise M., McCall, Maureen A., Riemslag, Frans C.C., Gregg, Ronald G., Bergen, Arthur A.B., Kamermans, Maarten

Volltext

Effects of DTL electrode position on the amplitude and implicit time of the electroretinogram von Brouwer, Anna H., de Wit, Gerard C., de Boer, Joke H., van Genderen, Maria M.

Volltext

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome von Littink, Karin W, Stappers, Patricia T Y, Riemslag, Frans C C, Talsma, Herman E, van Genderen, Maria M, Cremers, Frans P M, Collin, Rob W J, van den Born, L Ingeborgh

Volltext

A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens von Littink, Karin W., MD, PhD, van Genderen, Maria M., MD, PhD, van Schooneveld, Mary J., MD, PhD, Visser, Linda, MD, Riemslag, Frans C.C., PhD, Keunen, Jan E.E., MD, PhD, Bakker, Bjorn, BSc, Zonneveld, Marijke N., BSc, den Hollander, Anneke I., PhD, Cremers, Frans P.M., PhD, van den Born, L. Ingeborgh, MD, PhD

Volltext

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies von Talib, Mays, Schooneveld, Mary J., Wijnholds, Jan, Genderen, Maria M., Schalij‐Delfos, Nicoline E., Talsma, Herman E., Florijn, Ralph J., Brink, Jacoline B., Cremers, Frans P.M., Thiadens, Alberta A.H.J., Born, L. Ingeborgh, Hoyng, Carel B., Meester‐Smoor, Magda A., Bergen, Arthur A., Boon, Camiel J.F.

Volltext

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A von de Muijnck, Cansu, van Schooneveld, Mary J., Plomp, Astrid S., Rodenburg, Richard J., van Genderen, Maria M., Boon, Camiel J.F.

Volltext

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy von Thiadens, Alberta A.H.J., MD, PhD, Phan, T. My Lan, MD, Zekveld-Vroon, Renate C., MD, Leroy, Bart P., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Klaver, Caroline C.W., MD, PhD, Roosing, Susanne, Pott, Jan-Willem R, van Schooneveld, Mary J, van Moll-Ramirez, Norka, van Genderen, Maria M, Boon, Camiel J.F, den Hollander, Anneke I, Bergen, Arthur A.B, De Baere, Elfride, Cremers, Frans P.M, Lotery, Andrew J

Volltext

Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects von Haer-Wigman, Lonneke, den Ouden, Amber, Derks, Ronny, van Genderen, Maria M., Lugtenberg, Dorien, Verheij, Joke, Vijzelaar, Raymon, Yntema, Helger G., Vissers, Lisenka E. L. M., Neveling, Kornelia

Volltext

The Phenotypic Spectrum of Albinism von Kruijt, Charlotte C., de Wit, Gerard C., Bergen, Arthur A., Florijn, Ralph J., Schalij-Delfos, Nicoline E., van Genderen, Maria M.

Volltext