Results 61 to 70 of about 20,458 (217)

Development of a Swine Whole Eye Transplant Ex Vivo Perfusion Protocol

Artificial Organs, EarlyView.
This study establishes the first subnormothermic machine perfusion protocol for whole eye transplants in a swine model, enabling up to 18 h of preservation with stable metabolic function, limited edema, and recovery of mydriasis. ABSTRACT Background The first human Whole Eye Transplant (WET) has sparked new hope for patients who have lost vision due to
Haïzam Oubari, Lucile Cabanel, Yanis Berkane, Ali Mojallal, Mark A. Randolph, Basak Uygun, Korkut Uygun, Curtis L. Cetrulo Jr., Alexandre G. Lellouch   +8 more
wiley   +1 more source

Exploring fundus‐controlled mesopic and scotopic perimetry in inherited retinal disease

Acta Ophthalmologica, EarlyView.
Abstract Purpose Microperimetry is increasingly used as an outcome measure in clinical trials for retinal disease. This study compares mesopic and scotopic microperimetry in a heterogeneous cohort of patients with inherited retinal disease to assess their suitability as clinical trial outcome measures and to determine the most appropriate testing ...
Laura J. Taylor, Amandeep S. Josan, Daniel A O Adeyoju, Isabella Farrance, Robert E. MacLaren   +4 more
wiley   +1 more source

Molecular and Clinical Findings in Patients With Knobloch Syndrome [PDF]

, 2016
IMPORTANCE: Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele, but it is now known to have an increasingly variable phenotype. There is a lack of reported
Arno, G, Chandra, A, Chen, R, Davagnanam, I, Ge, Z, Holder, GE, Hull, S, Ku, CA, Michaelides, M, Moore, AT, Pennesi, ME, Robson, AG, Waseem, N, Webster, AR, Weleber, RG   +14 more
core   +1 more source

Impaired Ganglion Cell Function Objectively Assessed by the Photopic Negative Response in Affected and Asymptomatic Members From Brazilian Families With Leber's Hereditary Optic Neuropathy

Frontiers in Neurology, 2021
Purpose: The photopic negative response (PhNR) is an electrophysiological method that provides retinal ganglion cell function assessment using full-field stimulation that does not require clear optics or refractive correction.
Gabriel Izan Santos Botelho, Solange Rios Salomão, Célia Harumi Tengan, Rustum Karanjia, Rustum Karanjia, Rustum Karanjia, Rustum Karanjia, Felipo Victor Moura, Daniel Martins Rocha, Paula Baptista Eliseo da Silva, Arthur Gustavo Fernandes, Sung Eun Song Watanabe, Paula Yuri Sacai, Rubens Belfort, Rubens Belfort, Valerio Carelli, Alfredo Arrigo Sadun, Alfredo Arrigo Sadun, Adriana Berezovsky   +18 more
doaj   +1 more source

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy

Clinical Genetics, EarlyView.
A heterozygous PHB1 missense variant (p.Ser147Phe) segregates with autosomal dominant optic atrophy in a multi‐generation family. Structural and cellular analyses suggest altered mitochondrial dynamics, identifying PHB1 as a novel candidate gene for hereditary optic neuropathy. ABSTRACT Hereditary optic neuropathies comprise a genetically heterogeneous
Marija Volk, Aleš Maver, Martina Jarc Vidmar, Nuša Trošt, Tanja Višnjar, Ana Fakin, Lea Kovač, Maja Šuštar Habjan, Lucija Malinar, Sanja Petrović Pajić, Urška Dragin Jerman, Rok Romih, Marko Hawlina, Borut Peterlin   +13 more
wiley   +1 more source

Anti‐Apoptotic and Neurite‐Protective Nanomedicine Augments Embryonic Stem Cells‐Derived Retinal Ganglion Cell Transplantation in Glaucoma Recovery

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Lithium‐epigallocatechin gallate nanoparticles (Li‐EGCG NPs) are co‐transplanted with embryonic stem cell‐derived retinal ganglion cells (ESC‐RGCs) to enhance cell survival and therapeutic efficacy in an acute pathological glaucomatous injury model. This synergistic approach protects RGC cells, preserves retinal structure and improves visual function ...
Moxin Chen, Xiaoyan Jiang, Yuanhui Wang, Zhaobin Luo, Yu Zhang, Siwei Liu, Rui Huang, Dandan Zhang, Zhimin Tang, Yahan Ju, Shaohui Pan, Ni Ni, Wei Feng, Yu Chen, Ping Gu   +14 more
wiley   +1 more source

Characterising PRPF31‐associated retinal dystrophy: Clinical insights from baseline data in a natural history study

Acta Ophthalmologica, Volume 104, Issue 3, Page e317-e328, May 2026.
Abstract Purpose To characterise the baseline clinical features and genotypes of adults with pre‐mRNA processing factor 31 (PRPF31)‐associated retinal dystrophy (RD) enrolled in a prospective, multicentre 4‐year natural history study, and to explore correlations between selected baseline parameters.
Kathrine Olaussen Eriksen, Jon Roger Eidet, Ulrika Kjellström, Jacopo Baldesi, Ragnheidur Bragadóttir, Leonardo Colombo, Josephine Prener Holtan   +6 more
wiley   +1 more source

Cell‐Type‐Dependent Metabolic Compensation Preserves Photoreceptor Survival Through Pyruvate Kinase Isoform Balance

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
We investigated the roles of PKM2, PKM1, and LDHA in retinal metabolism and structural integrity. In the normal retina, these enzymes are maintained at defined levels that support photoreceptor function. Rod‐specific deletion of LDHA, alone or with PKM2, caused age‐dependent degeneration, as PKM1 induction did not reach levels comparable to PKM2.
Ammaji Rajala, Larissa J. Trevino, Tyler M. Black, Raju V. S. Rajala   +3 more
wiley   +1 more source

The Cone Dysfunction Syndromes [PDF]

, 2016
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision, and varying degrees of colour vision abnormalities, nystagmus and photophobia.
Aboshiha, J, Carroll, J, Dubis, AM, Harcastle, AJ, Michaelides, M   +4 more
core  

An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral Calcinosis [PDF]

, 2019
Hyperphosphatemia in the absence of renal failure is an unusual occurrence, particularly in children, but is a common primary feature of familial hyperphosphatemic tumor calcinosis.
Acton, Dena, Evans, Michael J., Gray, Amie K., Ichikawa, Shoji, Kekunnaya, Ramesh, Lingappa, Lokesh, Madarasu, Rajsekara Chakravarthi, Siddaiahagari, Sirisharani   +7 more
core   +1 more source