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

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

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

Nonpenetrance of the Most Frequent Autosomal Recessive Leber Congenital Amaurosis Mutation in NMNAT1 von Siemiatkowska, Anna M, Schuurs-Hoeijmakers, Janneke H. M, Bosch, Danielle G. M, Boonstra, F. Nienke, Riemslag, Frans C. C, Ruiter, Mariken, de Vries, Bert B. A, den Hollander, Anneke I, Collin, Rob W. J, Cremers, Frans P. M

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

A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone-Rod Synaptic Disorder von Littink, Karin W, van Genderen, Maria M, Collin, Rob W. J, Roosing, Susanne, de Brouwer, Arjan P. M, Riemslag, Frans C. C, Venselaar, Hanka, Thiadens, Alberta A. H. J, Hoyng, Carel B, Rohrschneider, Klaus, den Hollander, Anneke I, Cremers, Frans P. M, van den Born, L. Ingeborgh

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

Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model von Klooster, Jan, van Genderen, Maria M, Yu, Minzhong, Florijn, Ralph J, Riemslag, Frans C C, Bergen, Arthur A B, Gregg, Ronald G, Peachey, Neal S, Kamermans, Maarten

Volltext

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features von Huet, Ramon A. C., Siemiatkowska, Anna M., Özgül, Riza K., Yücel, Didem, Hoyng, Carel B., Banin, Eyal, Blumenfeld, Anat, Rotenstreich, Ygal, Riemslag, Frans C. C., Hollander, Anneke I., Theelen, Thomas, Collin, Rob W. J., Born, L. Ingeborgh, Klevering, B. Jeroen

Volltext

An extended 15 Hz ERG protocol (1): the contributions of primary and secondary rod pathways and the cone pathway von Bijveld, Mieke M. C., Kappers, Astrid M. L., Riemslag, Frans C. C., Hoeben, Frank P., Vrijling, Anne C. L., van Genderen, Maria M.

Volltext

Clinical course of cone dystrophy caused by mutations in the RPGR gene von Thiadens, Alberta A. H. J., Soerjoesing, Gyan G., Florijn, Ralph J., Tjiam, A. G., den Hollander, Anneke I., van den Born, L. Ingeborgh, Riemslag, Frans C., Bergen, Arthur A. B., Klaver, Caroline C. W.

Volltext

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options von Boon, Camiel J F, van den Born, L Ingeborgh, Visser, Linda, Keunen, Jan E E, Bergen, Arthur A B, Booij, Judith C, Riemslag, Frans C, Florijn, Ralph J, van Schooneveld, Mary J

Volltext

An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2 von Bijveld, Mieke M. C., Riemslag, Frans C. C., Kappers, Astrid M. L., Hoeben, Frank P., van Genderen, Maria M.

Volltext

Visually impaired children: “coming to better terms” von Riemslag, Frans C. C.

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

Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction von Roosing, Susanne, BSc, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Thiadens, Alberta A.H.J., MD, PhD, de Baere, Elfride, MD, PhD, Collin, Rob W.J., PhD, Koenekoop, Robert K., MD, PhD, Leroy, Bart P., MD, PhD, van Moll-Ramirez, Norka, MD, Venselaar, Hanka, PhD, Riemslag, Frans C.C., PhD, Cremers, Frans P.M., PhD, Klaver, Caroline C.W., MD, PhD, den Hollander, Anneke I., PhD

Volltext

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14 von Klaver, Caroline C W, Solouki, Abbas M, Verhoeven, Virginie J M, van Duijn, Cornelia M, Verkerk, Annemieke J M H, Ikram, M Kamran, Hysi, Pirro G, Despriet, Dominiek D G, van Koolwijk, Leonieke M, Ho, Lintje, Ramdas, Wishal D, Czudowska, Monika, Kuijpers, Robert W A M, Amin, Najaf, Struchalin, Maksim, Aulchenko, Yurii S, van Rij, Gabriel, Riemslag, Frans C C, Young, Terri L, Mackey, David A, Spector, Timothy D, Gorgels, Theo G M F, Willemse-Assink, Jacqueline J M, Isaacs, Aaron, Kramer, Rogier, Swagemakers, Sigrid M A, Bergen, Arthur A B, van Oosterhout, Andy A L J, Oostra, Ben A, Rivadeneira, Fernando, Uitterlinden, André G, Hofman, Albert, de Jong, Paulus T V M, Hammond, Christopher J, Vingerling, Johannes R

Volltext

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290 von Roosing, Susanne, Cremers, Frans P M, Riemslag, Frans C C, Zonneveld-Vrieling, Marijke N, Talsma, Herman E, Klessens-Godfroy, Francoise J M, den Hollander, Anneke I, van den Born, L Ingeborgh

Volltext

Cone-rod dystrophy can be a manifestation of Danon disease von Thiadens, Alberta A. H. J., Slingerland, Niki W. R., Florijn, Ralph J., Visser, Gerhard H., Riemslag, Frans C., Klaver, Caroline C. W.

Volltext

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68 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