Results 61 to 70 of about 5,980 (178)

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies [PDF]

, 2015
Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries.
Jarral, A., Ansar, M., Rivolta, C., Saqib, Muhammad Arif Nadeem, Venturini, Giulia, Ansar, Muhammad, Ullah, Ehsan, Sher Khan, Falak, Bibi, Rabia, Iqbal, J., Jarral, Afeefa, Bibi, R., Nishiguchi, K.M., Sher Khan, F., Iqbal, Jamila, Rivolta, Carlo, Nikopoulos, K., Ullah, E., Saqib, M.A., Sajid, Sundus, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Sajid, S., Venturini, G.   +23 more
core   +1 more source

Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant

American Journal of Ophthalmology Case Reports
Purpose: To report a patient with cone dystrophy and a striking tapetal reflex caused by a novel variant in TTLL5, which was initially missed by a local retinal specialist due to inaccurate phenotyping of macular dystrophy.
Yi Zhai, Rita Kodida, Brian G. Ballios
doaj   +1 more source

Dissecting PDE6-Associated Inherited Retinal Dystrophies Using Patient-Derived Retinal Models

Organoids
Inherited retinal dystrophies (IRDs) comprise a diverse group of genetic disorders that frequently result in irreversible vision loss due to photoreceptor dysfunction or degeneration. Among them, retinitis pigmentosa (RP) and achromatopsia (ACHM) are, in
Paula Gaudó, Anniken Burés-Jelstrup, Laura Siles, Rafael Navarro, Esther Pomares   +4 more
doaj   +1 more source

Reconceptualizing Pediatric Strabismus as a Condition Rooted in Sensory Processing Disorder: A Novel Case-Based Hypothesis

Children
Background/Objectives: A direct link between sensory processing disorder (SPD) and strabismus has not been systematically investigated, though prior studies suggest sensory modulation may influence visual behaviors. Traditional approaches view strabismus
Mirjana Bjeloš, Ana Ćurić, Mladen Bušić, Katja Rončević, Adrian Elabjer   +4 more
doaj   +1 more source

Management of inherited outer retinal dystrophies: present and future [PDF]

British Journal of Ophthalmology, 1999
The inherited outer retinal dystrophies comprise a large number of disorders characterised by a slow and progressive retinal degeneration. They have been arbitrarily divided into macular dystrophies, retinitis pigmentosa (RP), and cone/rod dystrophies on the basis of their phenotype.
N H, Chong, A C, Bird
openaire   +2 more sources

Gene therapy on inherited retinal dystrophies: an update. [PDF]

, 2018
[EN] Inherited retinal dystrophies (IRDs) are a heterogeneous group of disorders characterized by mutations in one of more than 290 identified genes and loci (https://sph.uth.edu/retnet/disease.htm), resulting in the dysfunction or death of ...
Crespo Cruz, Marina Izaskun
core  

How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization

, 2023
Inherited macular dystrophies refer to a group of degenerative conditions that predominantly affect the macula in the spectrum of inherited retinal dystrophies.
Mario R. Romano, Fabiana D’Esposito, Tania Sorrentino, Davide Allegrini, Panos Tsoutsanis, Elisa Stradiotto, Ciro Costagliola, Francesco Paolo De Rosa, Gianmaria Barone, Raffaele Raimondi, Angelica Rizzato   +10 more
core   +1 more source

Inherited retinal dystrophies. Studies on the clinical and genetic characteristics [PDF]

, 2015
Contains fulltext : 147477.pdf (Publisher’s version ) (Open Access)Defects in over 150 genes can lead to an inherited retinal dystrophy.
Huet, R.A.C. van
core  

Early Visual Symptom Patterns in Inherited Retinal Dystrophies

, 2011
The present retrospective study compared initial visual symptom patterns in inherited retinal dystrophies (IRD) on the basis of records of 544 patients diagnosed with a wide variety of IRD at the Tuebingen University Eye Hospital from 2005 to 2008.
Eric Troeger, Elena Prokofyeva, Robert Wilke, Eberhart Zrenner   +3 more
core   +1 more source

Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

, 2019
Optical coherence tomography angiography (OCTA) is a novel, noninvasive imaging modality that allows depth-resolved imaging of the microvasculature in the retina and the choroid.
Ong, Singh, Patel
core   +1 more source