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. Results: Of 549 patients referred for diagnostic confirmation or management of retinoblastoma, 393 (71.6%) patients were found to have retinoblastoma and 156 (28.4%) patients received the diagnosis of pseudoretinoblastoma. The mean patient age at presentation was 52.1 months, ranging from 1 to 276 months. The most common diagnoses among patients with pseudoretinoblastoma younger than 1 year were persistent fetal vasculature (PFV) (n = 19; 28.8%), Coats disease (n = 7; 10.6%), chorioretinal coloboma (n = 4; 6.1%), retinal dysplasia (n = 4; 6.1%), and retinal detachment (n = 4; 6.1%). In patients with pseudoretinoblastoma who were 1 to 5 years old, the most common diagnoses were Coats disease (n = 10; 25.6%), PFV (n = 7; 17.9%), and optic disc hypoplasia (n = 3; 7.7%). Patients older than 5 years were most likely to have Coats disease (n = 8; 15.7%), optic disc drusen (n = 5; 9.8%), retinopathy of prematurity (n = 4; 7.8%), and combined hamartoma (n = 4; 7.8%). Conclusions: This study shows that 28.4% of patients referred for suspicion or management of retinoblastoma were classified as having pseudoretinoblastoma. The most common conditions causing diagnostic confusion with retinoblastoma included PFV and Coats disease, similar to previous publications from both high-and low-income countries. [ J Pediatr Ophthalmol Strabismus . 2021;58(3):161–167.]
Optic disc drusen (ODD) is an important clinical entity that is sometimes misdiagnosed as papilledema because of elevated and blurred disc margins. A 17-year-old male who presented with headaches underwent detailed ophthalmological examination as well as colored fundus photography, B-scan ultrasonography (USG), fundus autofluorescence (FAF), optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), and visual field testing. His visual acuity was 10/10 in both eyes. Fundus examination revealed bilateral blurred and elevated optic disc margins. Diagnosis of bilateral ODD was confirmed with B-scan USG. FAF imaging revealed hyperautofluorescent areas on both optic discs. Optic nerve head OCT scans showed elevated irregular disc borders and thinning of the retinal nerve fiber layer in both eyes. On visual field testing, loss of the nasal visual field was detected in the left eye. OCTA imaging showed focal capillary dropout, especially in the nasal peripapillary area, in both eyes and reduced peripapillary and macular vessel density. In this case report, we evaluated the clinical findings and the structural features of bilateral ODD with multimodal imaging modalities including OCTA.
BACKGROUND AND OBJECTİVE: The purpose of this study is to compare the morphological features of type 1 choroidal neovascularization (CNV) in eyes with age-related macular degeneration (AMD) and pachychoroid neovasculopathy (PNV) using optical coherence tomography angiography (OCTA). PATİENTS AND METHODS: Nineteen eyes of 17 patients with PNV and 30 eyes of 30 patients with AMD were evaluated. The size and area of CNV and morphological patterns during a 6-month period were analyzed using optical coherence tomography angiography. RESULTS: The presence of a feeder vessel was more common in AMD than in PNV. Indistinct pattern was more common in PNV than AMD. Pruned vascular tree pattern was rare in PNV eyes during follow-up. The mean size and flow of selected CNV area was significantly smaller in PNV group. CONCLUSİON: This study demonstrated that type 1 CNVs in the PNV group is characterized by a smaller area. Morphologic pattern differences between them might be explained by different etiopathogenesis under these circumstances. [ Ophthalmic Surg Lasers Imaging Retina. 2020;51:640–647.]
29-year-old woman presented with dark-colored raised lesions on both eyelids since early childhood. Ophthalmological examination revealed pigmented verrucous lesions on her upper and lower eyelids bilaterally. The patient had a history of generalized tonic-clonic seizures. Dermatological examination revealed hyperpigmented verrucous plaques arranged along lines of Blaschko on the neck, trunk, and arms. On the basis of these findings, the diagnosis of epidermal nevus syndrome (ENS) was made. She had surgery for debulking of the lesions. Histological analysis revealed hyperkeratosis with foci of parakeratosis, acanthosis, and papillomatosis, consistent with linear verrucous epidermal nevus. Postoperative residual lesions did not respond to oral acitretin therapy (10 mg/kg/day for 2 months). Systematized ENS can rarely cause linear verrucous nevi on the upper and lower eyelids on both sides. These patients should be investigated for accompanying systemic anomalies and followed for potential malignant transformation of the skin lesions.
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