Macular dystrophies mimicking age-related macular degeneration

NTM Saksens, M Fleckenstein… - Progress in retinal and …, 2014 - Elsevier
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in
the elderly population in the Western world. AMD is a clinically heterogeneous disease …

[HTML][HTML] Late-onset retinal degeneration: clinical perspectives

L Lando, S Borooah - Clinical Ophthalmology (Auckland, NZ), 2022 - ncbi.nlm.nih.gov
Late-onset retinal degeneration (L-ORD) is a type of retinal dystrophy marked by nyctalopia
and subretinal pigment epithelium deposits, which eventually promote retinal atrophy with …

Choriocapillaris nonperfusion is associated with poor visual acuity in eyes with reticular pseudodrusen

PL Nesper, BT Soetikno, AA Fawzi - American journal of ophthalmology, 2017 - Elsevier
Purpose To study choriocapillaris blood flow in age-related macular degeneration (AMD)
using optical coherence tomography angiography (OCTA) and study its correlation to visual …

Improving the age-related macular degeneration construct: a new classification system

RF Spaide - Retina, 2018 - journals.lww.com
Previous models of disease in age-related macular degeneration (AMD) were incomplete in
that they did not encompass subretinal drusenoid deposits (pseudodrusen), subtypes of …

Longitudinal structural changes in late-onset retinal degeneration

C Cukras, J Flamendorf, WT Wong, R Ayyagari… - Retina, 2016 - journals.lww.com
Purpose: To characterize longitudinal structural changes in early stages of late-onset retinal
degeneration to investigate pathogenic mechanisms. Methods: Two affected siblings, both …

Loss of CTRP5 improves insulin action and hepatic steatosis

X Lei, S Rodriguez, PS Petersen… - American journal …, 2016 - journals.physiology.org
The gene that encodes C1q/TNF-related protein 5 (CTRP5), a secreted protein of the C1q
family, is mutated in individuals with late-onset retinal degeneration. CTRP5 is widely …

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene

J De Zaeytijd, F Coppieters, M De Bruyne… - Ophthalmic …, 2021 - Taylor & Francis
Background: Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant retinal
dystrophy related to C1QTNF5 gene variants. Materials and methods: Twenty-six patients …

Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization

NM Fuerst, L Serrano, G Han, JIW Morgan… - Ophthalmic …, 2016 - Taylor & Francis
Purpose: To describe in detail the phenotype of a patient with Bietti crystalline dystrophy
(BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal …

Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies

Y Haraguchi, TK Chiang, M Yu - Journal of Clinical Medicine, 2023 - mdpi.com
Inherited retinal dystrophies encompass a diverse group of disorders affecting the structure
and function of the retina, leading to progressive visual impairment and, in severe cases …

Reticular pseudodrusen in late-onset retinal degeneration

S Borooah, V Papastavrou, L Lando, J Han, JH Lin… - Ophthalmology …, 2021 - Elsevier
Purpose To characterize the association of reticular pseudodrusen (RPD) with late-onset
retinal degeneration (L-ORD) using multimodal imaging. Design Prospective, 2-center …