Results 41 to 50 of about 69,784 (157)
Modelling the Genetic Risk in Age-Related Macular Degeneration [PDF]
, 2012 Late-stage age-related macular degeneration (AMD) is a common sight-threatening disease of the central retina affecting approximately 1 in 30 Caucasians.
Weber, Bernhard H. F. +29 more
core +1 more source
A Rare Duo: Bilateral Macular Coloboma with One Dragged Disc
Delhi Journal of OphthalmologyMacular colobomas are atypical and rare variants of congenital ocular anomalies; further, dragging of the optic disc is extremely rare. Here, presenting a case report on the rare duo of bilateral macular coloboma with unilateral right-sided dragged optic
Anju Bhaskar +2 more
doaj +1 more source
Bilateral congenital macular coloboma and cataract
Medicine, 2019 Abstract Rationale: The case with congenital macular coloboma and cataract was rarely reported, and the pathogenic gene of the disease is still not clear. Moreover, it is difficult to improve the visual acuity of the eye with this disease.
Zhang, Canwei +5 more
openaire +2 more sources
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum.
Nadira Sultana +2 more
wiley +1 more source
Optical coherence tomography fast versus regular macular thickness mapping in diabetic retinopathy [PDF]
, 2008 Objective: The purpose of the study was to investigate if absolute values and reproducibility of thickness maps obtained from 2 optical coherence tomography (OCT) scanning protocols, regular high-resolution and fast low-density mode, differ in patients ...
Ceklic, Lala +2 more
core +1 more source
Macular coloboma with vitreomacular traction and foveal atrophy
Indian Journal of Ophthalmology. Case ReportsJinyuan Wang, Shiyi Yin, Wenbin Wei
doaj +2 more sources
Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism—Not to Be Confused With NF1
Pediatric Dermatology, Volume 43, Issue 1, Page 128-131, January/February 2026.ABSTRACT We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential ...
Karina M. Forde +3 more
wiley +1 more source
Comparison of Intravitreal Bevacizumab versus Triamcinolone for the Treatment of Diffuse Diabetic Macular Edema [PDF]
, 2010 Background: Our purpose was to compare the effect of triamcinolone and bevacizumab (Avastin) on the retinal thickness and functional outcome in patients with diabetic macular edema. Methods and Materials: A collective of 32 patients, who had been treated
Haritoglou, Christos +6 more
core +1 more source
Surgery for macular holes associated with unusual concomitant pathologies
Oman Journal of Ophthalmology, 2013 Macular hole (MH) is uncommonly seen in association with retinitis pigmentosa (RP), optic disc pit or choroidal coloboma. The visual disability in eyes with RP, optic disc pit or choroidal coloboma can range from mild to severe.
Dhanashree Ratra, Vishal Raval
doaj +1 more source
Ophthalmic Manifestations in A Patient With Kabuki Syndrome: A Case Report With a KDM6A Gene Variant
Case Reports in Ophthalmological Medicine, Volume 2026, Issue 1, 2026.Kabuki syndrome (KS) is a rare genetic disorder with a wide phenotypic spectrum and several genotypic variants. KS can result from mutations on Chromosome 12 (KMT2D gene) and Chromosome X (KDM6A gene). The KDM6A gene mutation is seen in approximately 2%–6% of Kabuki syndrome cases.
Tülin Öğreden +2 more
wiley +1 more source