Results 51 to 60 of about 29,682 (236)

Genetic testing in retinal dystrophies

Oman Journal of Ophthalmology, 2011
Developments in genetics and technology are bringing with them incredible possibilities in the management and potential cure of patients with retinal dystrophy. In this editorial, we address the issue of genetic testing in retinal dystrophies. In the first section, we provide some background information about genetic testing.
Ganesh, Anuradha, Keep, Rosanne B
openaire   +3 more sources

Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes

Diagnostics, 2023
(1) Purpose: ABCA4-associated retinal degeneration (ABCA4-RD) is a phenotypically diverse disease that often evades diagnosis, even by experienced retinal specialists.
Tien-En Tan, Rachael Wei Chao Tang, Choi Mun Chan, Ranjana S. Mathur, Beau J. Fenner   +4 more
doaj   +1 more source

Retinal dystrophies: A look beyond the eyes

American Journal of Ophthalmology Case Reports, 2022
Purpose: To illustrate the importance of systemic evaluation in retinal dystrophies through examples of Alstrom syndrome, Bardet Biedl syndrome, and Refsum disease.
Vincent Duong Tang, Alena Egense, Glenn Yiu, Elijah Meyers, Ala Moshiri, Suma P. Shankar   +5 more
doaj   +1 more source

Long-term visual and microperimetry outcomes following autologous retinal pigment epithelium choroid graft for neovascular age-related macular degeneration

, 2009
To describe the 2- to 4-year visual and microperimetry outcomes of autologous retinal pigment epithelium (RPE)-choroid graft in patients with neovascular age-related macular degeneration (AMD).In this retrospective cohort study, 12 patients with ...
Coffey, PJ, Uppal, GS, Rubin, GS, Chen, FK, Tufail, A, Maclaren, Robert, Franzco, FKC, Aylward, GW, Da Cruz, L, MacLaren, RE   +9 more
core   +1 more source

An unusual central retinal dystrophy associated with ichthyosis vulgaris

, 2000
A number of ichthyosis syndromes may have retinal abnormalities such as the retinitis pigmentosa-like diffuse rod-cone dystrophy in Refsum's syndrome and the maculopathy in Sogren-Larsson syndrome.
Köse S., Durak I., Osman Saatci A., Kavukçu S., Özbek Z.   +4 more
core   +2 more sources

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Scientific Reports, 2017
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing.
Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum   +5 more
doaj   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

APPLICATIONS THE DRUG SLEZOVIT WITH A COMBINATION OF RETINALAMINE IN RETINAL DYSTROPHY

, 2022
The article explains the scientific significance of retinal dystrophy. An actual problem in ophthalmology at the present time is retinal dystrophy (DS).
T.Usmanova
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Misfolded Proteins and Retinal Dystrophies [PDF]

, 2009
Many mutations associated with retinal degeneration lead to the production of misfolded proteins by cells of the retina. Emerging evidence suggests that these abnormal proteins cause cell death by activating the Unfolded Protein Response, a set of conserved intracellular signaling pathways that detect protein misfolding within the endoplasmic reticulum
Jonathan H, Lin, Matthew M, Lavail
openaire   +2 more sources