Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel variants.

Aim: To assess the clinical and genetic characteristics of children diagnosed with retinoblastoma (RB) at Gazi University Faculty of Medicine's Department of Pediatric Oncology.

Methods: All cases diagnosed with RB and received treatment and follow-up in the Ophthalmology and Pediatric Oncology Department, October 2016 to May 2021 were evaluated retrospectively. The gene was analyzed by next-generation sequencing (NGS) technique in DNAs obtained from peripheral blood samples of the patients.

Clinical characteristics and the treatment modalities of Graves' orbitopathy in a tertiary referral center in Turkey: changes over two decades.

Purpose: To evaluate the changes in demographics, clinical findings, and treatment modalities in Graves' orbitopathy (GO) patients at a tertiary referral center in Turkey over the last two decades.

Methods: The clinical data of 752 GO patients were evaluated retrospectively. Patients were divided into 2 groups according to the first ophthalmic examination date; Group 1(n:344) between January 1998 and December 2007 and Group 2(n:408) between January 2008 and December 2017.

The Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.

Purpose: To review the authors' experience in the diagnosis of retinoblastoma and to explore the frequency of intraocular conditions that mimic this malignancy according to patient age at presentation.

Methods: This was a retrospective observational study including 549 patients (769 eyes) who were referred for confirmation and/or management of retinoblastoma between October 1998 and June 2019 at a single tertiary center. A detailed ocular examination was done by the same ocular oncologist under general anesthesia for every patient.

Primary mucosa-associated lymphoid tissue (MALT) lymphoma of the lacrimal drainage system in two pediatric patients.

Primary non-Hodgkin lymphoma (NHL) of lacrimal drainage system (LDS) is quite rare in children, but it is important to expedite early diagnosis in an effort to alter possible life-threatening disease since they are usually misdiagnosed as chronic dacryocystitis. In the literature, there are few examples of tumors of LDS in children. The authors herein report two pediatric cases of extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) originating from lacrimal sac in an attempt to increase the knowledge about the clinical course of NHL of LDS.

Gene Expression Profiling and PRAME Status Versus Tumor-Node-Metastasis Staging for Prognostication in Uveal Melanoma.

Purpose: To compare the prognostic accuracy of gene expression profiling (GEP) combined with PRAME status vs the clinical Tumor-Node-Metastasis (TNM) staging in patients with uveal melanoma (UM).

Design: Retrospective cohort study.

Methods: The study included 240 consecutive patients with UM.

Stereotactic Radiosurgery and Fractionated Stereotactic Radiation Therapy for the Treatment of Uveal Melanoma.

Purpose: To evaluate treatment results of stereotactic radiosurgery or fractionated stereotactic radiation therapy (SRS/FSRT) for uveal melanoma.

Methods And Materials: We retrospectively evaluated 181 patients with 182 uveal melanomas receiving SRS/FSRT between 2007 and 2013. Treatment was administered with CyberKnife.

Uveal Melanoma: Current Trends in Diagnosis and Management.

Uveal melanoma, which is the most common primary intraocular malignancy in adults, arises from melanocytes within the iris, ciliary body and choroid. The diagnosis is based principally on clinical examination of the tumor with biomicroscopy and indirect ophthalmoscopy and confirmed by diagnostic techniques such as ultrasonography, fundus fluorescein angiography and optical coherence tomography. The clinical diagnosis of posterior uveal melanomas can be made when the classical appearance of a pigmented dome-shaped mass is detected on dilated fundus exam.

Epigenetic reprogramming and aberrant expression of PRAME are associated with increased metastatic risk in Class 1 and Class 2 uveal melanomas.

Background: We previously identified PRAME as a biomarker for metastatic risk in Class 1 uveal melanomas. In this study, we sought to define a threshold value for positive PRAME expression (PRAME+) in a large dataset, identify factors associated with PRAME expression, evaluate the prognostic value of PRAME in Class 2 uveal melanomas, and determine whether PRAME expression is associated with aberrant hypomethylation of the PRAME promoter.

Results: Among 678 samples analyzed by qPCR, 498 (73.

Orbital Extension of an Unsuspected Choroidal Melanoma Presumably through an Aqueous Tube Shunt.

Aims: To report a patient with unrecognized small macular melanoma, who gradually developed neovascular glaucoma that was treated with an Ahmed valve. We presume that tumor cells gained access to the orbit through this aqueous drainage device.

Methods: The medical records pertaining to 5 different centers, the results of imaging studies, the clinical course of the patient and histopathological findings were retrospectively reviewed.

Intra-Arterial Chemotherapy for Retinoblastoma: A Single-Center Experience.

Background: Studies conducted in recent years have reported promising results regarding the treatment of retinoblastoma with the intra-arterial use of melphalan. In the present study, we intended to report the results of intra-arterial chemotherapy with melphalan (IACT) in the treatment of newly diagnosed or relapsed-refractory retinoblastoma patients at the Department of Pediatric Oncology of Hacettepe University, Ankara, Turkey.

Materials And Methods: This was a retrospective study of patients with intraocular retinoblastoma who were treated with IACT from December 2011 to May 2014.

Total clinical regression of an orbital macrocystic lymphatic malformation following intralesional sodium tetradecyl sulphate injection.

Lymphatic malformations are usually managed by observation, although significant cosmetic abnormalities, compressive optic neuropathy, risk of amblyopia, exposure keratopathy, or elevated intraocular pressure mandate treatment. We report the case of a 10-year-old boy with a deep orbital macrocystic lymphatic malformation that was successfully treated with intralesional injection of sodium tetradecyl sulphate, a sclerozing agent mainly used in the treatment of small varicose veins in the lower extremity.

Adult orbital xanthogranulomas: clinical features and management.

Purpose: Adult-onset asthma with periocular xanthogranuloma and adult-onset xanthogranuloma are 2 rare subtypes of non-Langerhans cell histiocytic disorder and much remains unknown regarding optimal treatment. The authors describe their experience in the management of these 2 disease subtypes.

Methods: This is a retrospective case series with histopathologically proven orbital xanthogranuloma over a period of 12 years.

Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.

Leber congenital amaurosis (LCA) causes severe visual impairment and blindness very early in life. Mutant alleles of several genes acting in different pathways, of which all have critical roles for normal retinal function, were involved in LCA development. The purpose of this study was to use genome-wide genotyping to identify LCA-causing loci in two Turkish families.

Renal Carcinoid Tumor Metastatic to the Uvea, Medial Rectus Muscle, and the Contralateral Lacrimal Gland.

Renal carcinoid tumor is an exceedingly rare malignancy. A 57-year-old man with a renal carcinoid tumor discovered after metastasizing to intraocular and bilateral orbital structures is described. The patient presented with a blind painful OS and a right superotemporal subconjunctival mass.

Optical coherence tomography characteristics of epi-iridic membrane in a child with recurrent hyphema and presumed juvenile xanthogranuloma.

We report a case of spontaneous hyphema in a 6-month-old girl with no history of trauma and no visible iris mass. Subtle green-blue heterochromia was noted in the right eye. The iris crypts in the right eye appeared flattened by a thin, transparent layer on the iris surface.

Orbital richter syndrome.

We report two patients with previously diagnosed chronic lymphocytic leukemia who developed Richter syndrome in the orbit as the sole extranodal site. The medical history, clinical findings, orbital imaging and histopathological features of the patients were reviewed. Treatment protocols and the outcomes were also assessed.

Subconjunctival hemorrhage: risk factors and potential indicators.

Subconjunctival hemorrhage is a benign disorder that is a common cause of acute ocular redness. The major risk factors include trauma and contact lens usage in younger patients, whereas among the elderly, systemic vascular diseases such as hypertension, diabetes, and arteriosclerosis are more common. In patients in whom subconjunctival hemorrhage is recurrent or persistent, further evaluation, including workup for systemic hypertension, bleeding disorders, systemic and ocular malignancies, and drug side effects, is warranted.