Maugeri, Alessandra, Flothmann, Kris, Hemmrich, Nadine, Ingvast, Sofie, Jorge, Paula, Paloma, Eva, ...
Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, ...
We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We...
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., ...
The photoreceptor cell–specific ATP-binding cassette transporter gene (ABCA4; previously denoted “ABCR”) is mutated in most patients with autosomal recessive (AR) Stargardt disease (STGD1) or...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, ...
We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We...
Mutations in the ABCA4 (ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., ...
The photoreceptor cell–specific ATP-binding cassette transporter gene (ABCA4; previously denoted “ABCR”) is mutated in most patients with autosomal recessive (AR) Stargardt disease (STGD1) or...
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E. J., ...
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for ∼45% of LCA cases. We localized...
Central areolar choroidal dystrophy associated with dominantly inherited drusen
Klevering, B Jeroen, Van Driel, Marc, Van Hogerwou, August J M, Van De Pol, Dorien J R, Deutman, August F, Pinckers, Alfred J L G, ...
Aim: To describe the clinical and genetic aspects of a retinal dystrophy that combines central areolar choroidal dystrophy (CACD) and autosomal dominantly inherited drusen.