Results 61 to 70 of about 69,784 (157)

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

, 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

Correlation of Structure With Function: Future Utilities for Optical Coherence Tomography Angiography in Neuro‐Ophthalmology

Clinical &Experimental Ophthalmology, Volume 53, Issue 6, Page 682-697, August 2025.
ABSTRACT Optical coherence tomography angiography is a burgeoning imaging modality in Ophthalmology. In this review, we outline the breadth of potential utility for optical coherence tomography angiography for diagnosis and prognostication in neuro‐ophthalmology.
Marzieh Tahmasebi Sarvestani, Sudha Cugati, Celia Chen   +2 more
wiley   +1 more source

The estimated prevalence and incidence of late stage age related macular degeneration in the UK [PDF]

, 2012
BACKGROUND: UK estimates of age related macular degeneration (AMD) occurrence vary. AIMS: To estimate prevalence, number and incidence of AMD by type in the UK population aged ≥50 years.
Fletcher, AE, Owen, CG, Rudnicka, AR, Fletcher, Astrid E, Rudnicka, Alicja R, Jarrar, Z, Cook, DG, Wormald, Richard, Wormald, R, Owen, Christopher G, Jarrar, Zakariya, Cook, Derek G   +11 more
core   +1 more source

Síndrome de Michaelis-Manz. A propósito de un caso clínico

Anales del Sistema Sanitario de Navarra, 2018
El síndrome de Michaelis-Manz es una tubulopatía de herencia autosómica recesiva asociada a mutaciones en las proteínas claudina 16 y 19 que se encuentran en el túbulo contorneado distal y asa de Henle en el riñón.
P. Plaza-Ramos, L. Tabuenca-Del Barrio, A. Zubicoa-Eneriz, B. Goldaracena-Tanco   +3 more
doaj   +1 more source

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders

Clinical Genetics, Volume 108, Issue 1, Page 14-21, July 2025.
Inherited retinal diseases (IRDs) are a leading cause of vision loss, with an incidence of 1:2000. In this study of 50 Turkish patients, next‐generation sequencing identified pathogenic variants in 58%, including novel variants in six genes. This research enhances genetic understanding and supports improved diagnostics and treatments for IRDs ...
Cuneyd Yavas, Yunus Emre Arvas, Mustafa Dogan, Alper Gezdirici, Elif Sibel Aslan, Murat Karapapak, Savas Barıs, Recep Eroz   +7 more
wiley   +1 more source

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
A novel synonymous variant of PAX2 in monochorionic diamniotic twins with bilateral renal dysplasia was demonstrated to be associated with PAX2‐disorders through the integration of clinical findings and minigene assay results. ABSTRACT Background Paired Box 2 (PAX2, NM_000278.5) encodes paired box gene 2, one of many human homologs of the Drosophila ...
Wencong Yao, Bocheng Xu, Hao Wang, Shanling Liu, He Wang, Jingqun Mai, Xihan Wang, Xin Chen, Zhu Zhang   +8 more
wiley   +1 more source

Choroid cavitation associated with macular coloboma. Multimodal study. Image en face = Cavitación coroidea asociada a coloboma macular. Estudio multimodal. Imagen en face

Intrachoroidal cavitation is a finding identified with OCT initially described in myopic patients, it also appears in non-myopic patients. It can occur in both the peripapillary area and the posterior pole.
Duch Samper, Antonio Miguel, Ruiz del Rio, Noemí, García Ibor, Francisca, Hernández-Pérez, Delia   +3 more
core   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

A Population-Based Ultra-Widefield Digital Image Grading Study for Age-Related Macular Degeneration-Like Lesions at the Peripheral Retina. [PDF]

, 2015
Our understanding of the relevance of peripheral retinal abnormalities to disease in general and in age-related macular degeneration (AMD) in particular is limited by the lack of detailed peripheral imaging studies.
Lengyel, Imre, Florea, D, Lengyel, I, Csutak, Adrienne, Peto, Tunde, Peto, T, Leung, I, Bird, AC, Florea, Daniela, Csutak, A, Bird, Alan C., Jonasson, Fridbert, Leung, Irene, Jonasson, F   +13 more
core   +1 more source

A Novel De Novo Missense Variant in Netrin‐1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly

Clinical Genetics, Volume 107, Issue 3, Page 292-299, March 2025.
A novel heterozygous de novo NTN1 missense variant was identified in a patient with chorioretinal coloboma, sensorineural deafness and polydactyly, through screening of micropthalmia anophthalmia coloboma (MAC) patients in the Genomics England 100 000 Genomes Project dataset.
Maria Toms, Cara Heppell, Nicholas Owen, Samantha Malka, Mariya Moosajee, Genomics England Research Consortium   +5 more
wiley   +1 more source