Results 11 to 20 of about 2,460,078 (269)

Ciliary Defects in Inherited Retinal Diseases [PDF]

Advanced Genetics
Inherited retinal diseases (IRDs) are a heterogeneous group of disorders characterized by progressive photoreceptor degeneration that frequently results in severe vision loss. A major cause of IRDs is attributed to structural or functional defects of the
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
doaj   +5 more sources

Genetic testing and diagnosis of inherited retinal diseases [PDF]

Orphanet Journal of Rare Diseases, 2021
Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness.
Byron L. Lam, Bart P. Leroy, Graeme Black, Tuyen Ong, Dan Yoon, Karmen Trzupek   +5 more
doaj   +4 more sources

Diagnosis of inherited retinal diseases [PDF]

Klinische Monatsblätter für Augenheilkunde, 2021
Inherited retinal diseases are a frequent cause of severe visual impairment or blindness in children and adults of working age. Across this group of diseases, there is great variability in the degree of visual impairment, the impact on everyday life ...
Imran H. Yusuf, Charbel Issa, Peter, Johannes Birtel, Yusuf, Imran, Birtel, Johannes, Rudolph, Günter, Günter Rudolph, Priglinger, Claudia, Peter Charbel Issa, Claudia Priglinger   +9 more
core   +4 more sources

Inherited Retinal Diseases

International Journal of Molecular Sciences, 2022
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases that cause vision loss due to abnormal development or due to the dysfunction or degeneration of the photoreceptors or the retinal pigment epithelium [...
Tamar Ben-Yosef, Ben-Yosef, Tamar
core   +3 more sources

Expanding the Mutation Spectrum for Inherited Retinal Diseases [PDF]

Genes (Basel)
Background/Objectives: Inherited retinal diseases (IRDs) represent a diverse group of genetic disorders characterized by degeneration of the retina, leading to visual impairment and blindness. IRDs are heterogeneous, sharing common clinical features that
Grace K. Trigler, Ronald Kingsley, Jacob Lynn, Samuel J. Huang, Lea D. Bennett, Razek G. Coussa   +5 more
core   +4 more sources

Structural evaluation in inherited retinal diseases. [PDF]

British Journal of Ophthalmology, 2021
Ophthalmic genetics is a field that has been rapidly evolving over the last decade, mainly due to the flourishing of translational medicine for inherited retinal diseases (IRD).
Daich Varela, M, Michaelides, M, Georgiou, M, Hashem, SA, Cabral de Guimaraes, TA, Esener, B   +5 more
core   +6 more sources

Inherited Retinal Disease Therapies Targeting Precursor Messenger Ribonucleic Acid [PDF]

Vision, 2017
Inherited retinal diseases are an extremely diverse group of genetically and phenotypically heterogeneous conditions characterized by variable maturation of retinal development, impairment of photoreceptor cell function and gradual loss of photoreceptor ...
Di Huang, Sue Fletcher, Steve D. Wilton, Norman Palmer, Samuel McLenachan, David A. Mackey, Fred K. Chen   +6 more
doaj   +4 more sources

Burden and characteristics of inherited retinal diseases in China [PDF]

Scientific Reports
Hereditary eye diseases, particularly inherited retinal diseases (IRDs), are major causes of visual impairment and blindness. However, IRDs real-world impact in China remains limited.
Yuqing Lin, Xiyang Dou, Lihong Li, Wenhui Zhou, Wenqing Zhang, Lei Wang, Jason Zihan Wang, Yin Shen   +7 more
doaj   +2 more sources

Advanced therapeutic approaches for inherited retinal diseases: an umbrella review [PDF]

BMJ Open
Objectives To evaluate the efficacy and safety of advanced therapeutic approaches for inherited retinal disease (IRD) using evidence from systematic reviews and meta-analyses.Design Umbrella review.Data sources We searched for Epistemonikos, PubMed ...
Tiwabwork Tekalign, Kingsley Ekemiri, Esther Daniel, Robin Seemongal-Dass, Chioma Ekemiri, Virginia Victor, Maureen Amobi, Onohomo Adebo   +7 more
doaj   +2 more sources

Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort [PDF]

Genes (Basel)
Background/Objectives: Cystoid macular lesion (CML) is a treatable cause of central vision loss in inherited retinal diseases (IRDs). We aimed to determine the frequency of CML in a large Hungarian IRD cohort and examine associations with causative genes.
Viktoria Szabo, Barbara Asboth, Barbara Besztercei, Andras Vegh, Ditta Zobor, Agnes Takacs, Krisztina Knezy, Zoltan Zsolt Nagy, Balazs Varsanyi, Rita Vamos, Alessandra Sanrocco, Balazs Lesch   +11 more
core   +2 more sources