Results 41 to 50 of about 429,850 (164)

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source

Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Diagnostics, 2023
Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous.
Andrea Cusumano, Benedetto Falsini, Fabian D’Apolito, Michele D’Ambrosio, Jacopo Sebastiani, Raffaella Cascella, Shila Barati, Emiliano Giardina   +7 more
doaj   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

CDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability

Frontiers in Ophthalmology
IntroductionTo report a Japanese family with inherited retinal dystrophy (IRD) in which CDHR1 variants were identified, and to characterize the marked intrafamilial phenotypic variability.MethodsThis retrospective case series included three brothers ...
Toshiaki Hirakata, Dan Gao, Minami Oshima, Fumihiro Hara, Shintaro Nakao, Akira Murakami   +5 more
doaj   +1 more source

Dark Choroid in Cone-Rod Dystrophy

, 1992
An unusual pattern of dark choroid in an eight-year-old girl is described. The ophthalmoscopic, fluorescein angiographic and functional changes were indicative of progressive cone-rod dystrophy.
W. Van De Sompel, A. Leys
core   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

The molecular genetics of cone-rod retinal dystrophy [PDF]

, 1994
Genetic eye disease is an important and common cause of blindness in the developed World. The choroidoretinal dystrophies make up a significant proportion of this group of conditions.
Evans, Kevin
core   +1 more source

Usher syndrome‐related visual impairment in Finland: A 35‐year nationwide register‐based study (1985–2019)

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. Methods This register‐based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH‐related VI from 1985 to 2019.
Rasha Sameer Moustafa, Paula Mosallaei, Petri Purola, Laura Impiö, Mika Gissler, Hannu Uusitalo   +5 more
wiley   +1 more source

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

CRB1‐Associated Inherited Retinal Dystrophies: Prospective Natural History Study With 4 Years of Follow‐Up

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background The lack of validated and sensitive clinical endpoints remains a major challenge in the design of gene therapy trials for inherited retinal dystrophies (IRDs). This prospective longitudinal cohort study describes the natural disease progression of IRDs caused by pathogenic mutations in the Crumbs homologue 1 (CRB1) gene, and ...
Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Jos Twisk, Nicoline E. Schalij‐Delfos, Caroline C. W. Klaver, Ralph J. Florijn, Jacoline B. ten Brink, Magda A. Smoor, L. Ingeborgh van den Born, Carel B. Hoyng, Alberta A. H. J. Thiadens, Camiel J. F. Boon   +15 more
wiley   +1 more source