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A mouse model for uveal melanoma
Uveal melanoma (UM) is the most common malignant tumour arising within the eye and is a severe threat for both sight and life, due to a high risk of metastasis. There are no animal models of UM, but the Tg(Grm1)...
Case report of Leber hereditary optic neuropathy (LHON)
This case report presents a 74-year-old male patient who developed LHON, with a previous diagnosis of bilateral macular holes. LHON occurs predominantly in healthy young men and onset in older age ranges increases the likelihood that the patient will have...
Familial Mediterranean Fever and keratoconus
This retrospective case control study was conducted in the Genetic Diagnostic Centre in Turkey. It examined the prevalence of keratoconus in two groups; patients with Familial Mediterranean Fever (FMF) and age matched controls free of FMF, who were tested for...
Surgical results in spinocerebellar ataxia (SCA)
Patients with SCA frequently develop ocular motility abnormalities including nystagmus, abnormal smooth pursuits, dysmetric saccades, divergence paresis and ophthalmoplegia. Incidence of diplopia is higher in SCA type 3. The purpose of this study was to evaluate surgical responses and outcomes...
Online retinoblastoma surveillance tool
Given the vision and life-threatening course of retinoblastoma (RB), it has become a significant heritable childhood cancer to screen for. To recommend surveillance, risk must be estimated and genetic testing plays a vital role. However, genetic tests vary based on...
Features of branchio-oculo-facial syndrome
Branchio-oculo-facial (BOF) syndrome is an autosomal dominant inherited syndrome that typically presents with branchial cleft sinus defects, ocular anomalies and dysmorphic facial appearance. The authors present a new case alongside the results of a literature review describing the common genetic...
Stargardt disease in a Turkish cohort
The authors present a study of 27 Turkish patients who were seen in a single centre over a five-year period. All patients had macular optical coherence tomography (OCT), colour fundus photography and 30-2 Humphery visual fields performed, along with clinical...
A simple technique for managing eyelid retraction in a patient with an exposed Boston type 2 keratoprosthesis (Kpro)
The article describes a patient with mucous membrane pemphigoid and a Boston type 2 Kpro. In the early postoperative period (one week) inferior skin retraction was noted with exposure of the Kpro and carrier cornea. The exposure was managed by...
