Results 41 to 50 of about 266,209 (210)

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

A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis

, 2016
Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital
Abouzeid, Hana, Othman, I S, Othman, I. S., Abouzeid, H., Schorderet, D. F., Schorderet, D F   +5 more
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

CRB1 gene variant in leber congenital amaurosis: molecular and clinical investigations

Egyptian Journal of Medical Human Genetics
Introduction In Iran, due to widespread consanguineous marriages, the emergence of genetic variants is a likely issue. This study aimed to describe an Iranian female patient with a novel variant in the Crumbs homologue 1 (CRB1) associated with Leber ...
Almuthana K. Hameed, Ahmed M. Amshawee, Sahar Kareem Al-Mozani, Mostafa Neissi, Javad Mohammadi-Asl, Kamele Jorfi, Doaa Haqi Ismael, Elaheh Nekouei   +7 more
doaj   +1 more source

Techniques for subretinal injections in animals

Veterinary Ophthalmology, Volume 28, Issue 2, Page 506-518, March 2025.
Abstract Subretinal injections are not commonly performed during clinical treatment of animals but are frequently used in laboratory animal models to assess therapeutic efficacy and safety of gene and cell therapy products. Veterinary ophthalmologists are often employed to perform the injections in the laboratory animal setting, due to knowledge of ...
Ryan F. Boyd, Simon M. Petersen‐Jones
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

A defective structural zipper in photoreceptors causes inherited blindness

PLoS Biology, 2022
Being able to see the beauty of this world is a wonderful thing unfortunately unavailable to people with inherited blindness. In this issue of PLOS Biology, Mercey and colleagues present optimized expansion microscopy for retinal tissue, which represents
Siebren Faber, Ronald Roepman
doaj  

Organoids: Current Applications and Future Directions

MedComm, Volume 7, Issue 10, October 2026.
Organoids are three‐dimensional multicellular structures derived from stem cells or primary tissues that recapitulate key structural and functional features of native organs. Advances in stem cell biology, biomaterials, and bioengineering have established organoids as powerful platforms for studying human development and disease mechanisms, drug ...
Yueqi Leng, Yue Wang, Canhui Cao, Feng Deng, Weisi Lian, Xingtong Chen, Mingmei Lin, Zhonghong Zeng, Dan Mo, Shangqi Li, Yilei He, Yang Yu, Heng Pan, Ping Zhou, Rong Li   +14 more
wiley   +1 more source

Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia

Pediatric Pulmonology, Volume 61, Issue 10, October 2026.
ABSTRACT Introduction Primary ciliary dyskinesia (PCD), a disorder of motile ciliary dysfunction causing chronic respiratory infections, may also rarely present with aspects of non‐motile ciliary dysfunction, including retinitis, central nervous system malformations, skeletal dysplasia, and sensorineural hearing loss.
Abigail Bergman‐Sieger, Marc‐André Turcot, Lawrence E. Ostrowski, Patrick R. Sears, Maimoona A. Zariwala, Fateh Bechkir, Lisa R. Young, Adam J. Shapiro, Maureen B. Parenti   +8 more
wiley   +1 more source

NMNAT1 Mutations Cause Leber Congenital Amaurosis [PDF]

, 2013
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss. Two-thirds of LCA cases are caused by mutations in 17 known disease genes (RetNet Retinal Information Network). Using exome
Zhang, Qi, Kelly, Zoe, Consugar, Mark Bryant, Mackay, Donna S, Xiao, Rui, Zeitz, Christina, Borman, Arundhati Dev, Mohand-Said, Saddek, Sahel, José-Alain, Perin, Juan C, Shukla, Rachna, Jalali, Subhadra, Bhattacharya, Shomi S, Chakarova, Christina, Webster, Andrew R, Liu, Qin, Ostrovsky, Julian, Waseem, Naushin H, Nakamaru-Ogiso, Eiko, Pierce, Eric, Berson, Eliot L., Falk, Marni J, Kannabiran, Chitra, Moore, Anthony T, Gai, Xiaowu, Staniszewska, Magdalena, Audo, Isabelle, Palavalli, Lakshmi, Place, Emily   +28 more
core   +1 more source