Results 91 to 100 of about 431,670 (160)

Immuno-histochemical analysis of rod and cone reaction to RPE65 deficiency in the inferior and superior canine retina.

PLoS ONE, 2014
Mutations in the RPE65 gene are associated with autosomal recessive early onset severe retinal dystrophy. Morphological and functional studies indicate early and dramatic loss of rod photoreceptors and early loss of S-cone function, while L and M cones ...
Daniela Klein, Alexandra Mendes-Madeira, Patrice Schlegel, Fabienne Rolling, Birgit Lorenz, Silke Haverkamp, Knut Stieger   +6 more
doaj   +1 more source

Analysis of rod-cone dystrophy genes reveals unique mutational patterns. [PDF]

BMJ Open Sci, 2022
Jaffal L, Ibrahim M, El Shamieh S.
europepmc   +1 more source

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy.

, 2014
International audienceFor the development of new therapies, proof-of-concept studies in large animal models that share clinical features with their human counterparts represent a pivotal step.
Lhériteau, Elsa, Fabienne Rolling, Deschamps, Jack-Yves, Lemoine, Françoise, Lyse Libeau, El-Amraoui, Aziz, Achille François, Françoise Lemoine, Elsa Lhériteau, Guihal, Caroline, Alexandra Mendes-Madeira, Rolling, Fabienne, Guyon, Richard, Jack-Yves Deschamps, Mendes-Madeira, Alexandra, Samantha Papal, Guylène Le Meur, François, Achille, Philippe Moullier, Marie-Anne Colle, Libeau, Lyse, Caroline Guihal, Provost, Nathalie, Moullier, Philippe, Petit, Lolita, Weber, Michel, Papal, Samantha, Michel Weber, Aziz El-Amraoui, Colle, Marie-Anne, Le Meur, Guylène, Richard Guyon, Nathalie Provost, Lolita Petit   +33 more
core   +1 more source

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population

Scientific Reports
The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*
Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M. Nishiguchi, Hiroaki Ushida   +11 more
doaj   +1 more source

Female Simplex Carriers of X-Linked Retinal Dystrophies: A Case Series

Case Reports in Ophthalmology
Introduction: X-linked inherited retinal dystrophies (IRDs) lead to progressive vision loss in affected males and include choroideremia (CHM), X-linked retinitis pigmentosa (XLRP), and X-linked cone-rod dystrophy (XLCORD).
Adrienne Delaney, Kari E. Branham, K. Thiran Jayasundera, Naheed W. Khan, Abigail T. Fahim   +4 more
doaj   +1 more source

A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY. [PDF]

Retina, 2021
Meunier I, Bocquet B, Charif M, Dhaenens CM, Manes G, Amati-Bonneau P, Roubertie A, Zanlonghi X, Lenaers G.   +8 more
europepmc   +1 more source

Novel clinical presentation of a CRX rod-cone dystrophy. [PDF]

BMJ Case Rep, 2021
Gonzalez-Gonzalez LA, Scanga H, Traboulsi E, Nischal KK.   +3 more
europepmc   +1 more source

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

, 2008
There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy ...
Hall, Christine, Sérgio B. Sousa, Christine Hall, Hennekam, Raoul C. M., Raoul C.M. Hennekam, Sousa, Sérgio B., Hall, Bryan D., Russell-Eggitt, Isabelle, Isabelle Russell‐Eggitt, Bryan D. Hall   +9 more
core   +1 more source

CNGB1-related rod-cone dystrophy: A mutation review and update. [PDF]

Hum Mutat, 2021
Nassisi M, Smirnov VM, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I.   +33 more
europepmc   +1 more source

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy. [PDF]

Transl Vis Sci Technol, 2021
Roshandel D, Heath Jeffery RC, Charng J, Sampson DM, McLenachan S, Mackey DA, Chen FK.   +6 more
europepmc   +1 more source