Results 81 to 90 of about 60,185 (237)

Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa – the footprint is the clue: a case report

Journal of Medical Case Reports, 2008
Introduction Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations.
Jayaram Hari, Downes Susan M
doaj   +1 more source

Pregnancy in women with mitochondrial disease—A literature review and suggested guidance for preconception and pregnancy care

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 65, Issue 1, Page 30-36, February 2025.
Mitochondrial donation to reduce the risk of primary mitochondrial disease transmission from mother to child is now permitted under Australian law as part of a clinical trial. The energy demands of pregnancy have the potential to worsen mitochondrial disease symptoms and severity in affected women.
Lisa Hui, Pema Hayman, Ali Buckland, Michael C Fahey, David A Mackey, Andrew J Mallett, Daniel R Schweitzer, Clare P Stuart, Wai Yan Yau, John Christodoulou   +9 more
wiley   +1 more source

Retinitis pigmentosa

Orphanet Journal of Rare Diseases, 2006
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of
Hamel Christian
doaj   +1 more source

Fundus Autofluorescence Lifetime Patterns in Retinitis Pigmentosa.

Investigative Ophthalmology and Visual Science, 2018
Purpose We investigated whether fundus autofluorescence (FAF) lifetimes in patients with retinitis pigmentosa display a disease-specific lifetime pattern.
C. Dysli, Kaspar Schürch, Escher Pascal, S. Wolf, M. Zinkernagel   +4 more
semanticscholar   +1 more source

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Andrology, EarlyView.
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi, Maëva Drouault, Joao C. Ribeiro, Violaine Simon, Marjorie Whitfield, Aminata Touré   +5 more
wiley   +1 more source

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene

Scientific Reports
Sequence variants in Eyes Shut Homolog (EYS) gene are one of the most frequent causes of autosomal recessive retinitis pigmentosa (RP). Herein, we describe an Italian RP family characterized by EYS-related pseudodominant inheritance.
Enzo Di Iorio, Ginevra Giovanna Adamo, Ugo Sorrentino, Katia De Nadai, Vanessa Barbaro, Marco Mura, Marco Pellegrini, Francesca Boaretto, Marco Tavolato, Agnese Suppiej, Francesco Nasini, Leonardo Salviati, Francesco Parmeggiani   +12 more
doaj   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

Test–retest variability of mesopic microperimetry‐associated parameters in patients with retinitis pigmentosa: REPEAT Study Report No. 2

Acta Ophthalmologica, Volume 103, Issue 3, Page 313-326, May 2025.
Abstract Purpose Understanding test–retest variability (TRV) of mesopic microperimetry is critical for defining meaningful treatment effects in retinitis pigmentosa (RP) trials. This study uniquely evaluates intra‐ and intervisit TRV and coefficients of repeatability (CoRs) for microperimetry parameters in RP patients with varying best‐corrected visual
Jessica S. Karuntu, Maximilian Pfau, Jasleen K. Jolly, Camiel J. F. Boon   +3 more
wiley   +1 more source

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease

Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.
Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer, Stefan Löfgren, Anna Lindstrand, Malin Kvarnung, Erik Björck   +4 more
wiley   +1 more source

Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing

Autophagy, 2018
Aged and damaged mitochondria can be selectively degraded by specific autophagic elimination, termed mitophagy. Defects in mitophagy have been increasingly linked to several diseases including neurodegenerative diseases, metabolic diseases and other ...
Guang Xu, Tingting Li, Jiayi Chen, Changyan Li, Haixin Zhao, C. Yao, Hua Dong, Kaiqing Wen, Kai Wang, Jie Zhao, Qing Xia, Tao Zhou, Huafeng Zhang, P. Gao, Ailing Li, Xin Pan   +15 more
semanticscholar   +1 more source