Results 41 to 50 of about 1,424 (144)
Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome
Purpose: Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 ( (FBN1). In addition to typical phenotypes such as ectopia lentis (EL) and aortic dilation, patients with MFS are prone to ocular posterior segment ...
Yan Liu, BM +3 more
doaj +1 more source
Abstract Coats disease diagnosed in adulthood is a rare idiopathic retinal telangiectatic vasculopathy that may differ in phenotype from childhood‐diagnosed cases. This systematic review synthesizes current evidence to characterize its clinical spectrum, imaging features, treatment outcomes and underlying mechanisms, with a focus on immunovascular ...
Catarina Francisco +2 more
wiley +1 more source
Clinical manifestations of dual‐gene variants in retinitis pigmentosa
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 +11 more
wiley +1 more source
The sequence of events in six years of a myopic traction maculopathy
Purpose: To describe the sequence of events in a case of high myope with myopic traction maculopathy. Methods: Our female patient who is a high myope developed myopic choroidal neovascular membrane (CNVM), for which she received three anti-vascular ...
Baskaran, Prabu +2 more
doaj +1 more source
IMPG2-Related Maculopathy [PDF]
To investigate the phenotype, variability, and penetrance of IMPG2-related maculopathy.Retrospective observational case series.Clinical evaluation, multimodal retinal imaging, genetic testing, and molecular modeling.A total of 25 individuals with a mono-allelic IMPG2 variant were included, 5 of whom were relatives of patients with IMPG2-associated ...
Johannes Birtel +10 more
openaire +4 more sources
Abstract Purpose Retinal telangiectatic capillaries (TelCaps) are microvascular abnormalities associated with chronic vascular macular oedema and suboptimal response to intravitreal therapy. Targeted laser photocoagulation is beneficial but requires precise localization using indocyanine green angiography (ICG‐A), the reference standard. However, ICG‐A
Lucas Unger +7 more
wiley +1 more source
Spontaneous anatomical and functional recovery of bilateral electric shock maculopathy
A 12-year-old boy presented with best-corrected visual acuity (BCVA) of 6/9 in both eyes following an episode of electric shock. Optical coherence tomography (OCT) showed disruption of the ellipsoid zone as well as retinal pigment epithelium (RPE) layer.
Ratnesh Ranjan +3 more
doaj +1 more source
Retinal dystrophies simulating geographic atrophy: A diagnostic challenge
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 +3 more
wiley +1 more source
Minimal gauge vitrectomy for optic disc pit maculopathy: Our results
The purpose of the study was to describe the surgical technique and clinical outcomes of pars plana vitrectomy without laser or gas tamponade in cases with optic disc pit maculopathy at our centre.
Atul Kumar +4 more
doaj +1 more source
Maculopathy: a rare association of the Valsalva manoeuvre (Valsalva maculopathy)
A 22-year-old man complained of sudden, painless loss of vision (vague scotoma in central vision) in his right eye. The patient became symptomatic following a session of weight training at a gymnasium the previous day. There was no history trauma. Medical, ocular and familial history were unremarkable.
Sajjad Ahmed, Sheikh +3 more
openaire +3 more sources

