Retinoblastoma management has evolved from life-saving enucleation to globe preservation, vision preservation, and genetic prevention. Through three generations of one family, this article illustrates advances in radiotherapy, systemic and intravitreal chemotherapy, focal therapies, and preimplantation genetic testing, while highlighting persistent global disparities in diagnosis, treatment access, and outcomes worldwide today.
A child with rhombencephalosynapsis, part of the G & oacute;mez-L & oacute;pez-Hern & aacute;ndez spectrum, developed bilateral corneal hypoesthesia and neurotrophic keratopathy. Recurrent epithelial defects and progressive corneal haze occurred despite conservative therapy with lubrication, serum drops, and topical treatment. A persistent epithelial defect healed rapidly after application of a bandage contact lens. This case highlights the importance of early ophthalmologic surveillance and corneal sensitivity assessment in children with rhombencephalosynapsis. Bandage contact lenses are a safe and effective treatment option in pediatric neurotrophic keratopathy, promoting epithelial healing and helping prevent corneal scarring and vision loss.
An 11-year-old girl with DOCK8 (dedicator of cytokineatitis and subsequently developed methicillin-resistant Staphylococcus aureus-related bacterial keratitis as a superadded infection. Despite prompt antiviral and antibiotic therapy, the course of healing was slow, but ultimately the infections resolved and visual acuity improved. This case highlights the rare presentation and prolonged course of viral and bacterial keratitis in DOCK8 deficiency, emphasizing the need for early suspicion and aggressive management of infections.
This case is among the first reported instances of pediatric uveal melanoma masquerading as vitreous hemorrhage on ophthalmologic examination as well as on computed tomography and magnetic resonance imaging, illustrating how reliance on imaging alone can delay diagnosis when fundus visualization is obscured. A 10-year-old girl presented with unilateral vision loss; initial imaging suggested serous retinal detachment with vitreous hemorrhage, but persistent clinical suspicion for melanoma versus retinoblastoma prompted referral to a tertiary ocular oncology service, where magnetic resonance imaging revealed a gadolinium-enhancing intraocular mass. Enucleation was performed, and pathology confirmed spindle cell uveal melanoma (pT4aNxM0). Genetic and molecular testing showed low baseline metastatic risk despite large tumor size. The key takeaway is that persistent clinical suspicion, even when contradicted by initial radiologic interpretation, is essential in atypical pediatric presentations of intraocular hemorrhage, and multidisciplinary reevaluation can be diagnostic.
Purpose: To investigate the structural characteristics of the macula, optic nerve head, and choroid in eyes with primary microtropia using spectral-domain optical coherence tomography (SD-OCT). Methods: This prospective case–control study included 50 pediatric patients with a diagnosis of primary microtropia. Each participant contributed data from both eyes. Eyes were categorized as microtropic, fellow, or healthy control. All patients underwent comprehensive ophthalmic evaluation, including SD-OCT imaging. Parameters assessed included central macular thickness, total macular volume, regional retinal thickness, peripapillary retinal nerve fiber layer thickness, subfoveal and regional choroidal thickness, and choroidal vascular index. Results: No statistically significant differences were observed among microtropic, fellow, and control eyes in terms of central macular thickness, total macular volume, or peripapillary retinal nerve fiber layer thickness ( P > .05). Although microtropic eyes showed a mild trend toward increased parafoveal and perifoveal retinal thickness across all quadrants, this variation did not reach statistical significance. Similarly, subfoveal, nasal, and temporal choroidal thickness measurements, as well as choroidal vascularity index, luminal area, stromal area, and total choroidal area, were comparable across all groups. Conclusions: Primary microtropia was not associated with measurable retinal or choroidal structural abnormalities on SD-OCT. Although reduced visual acuity was present, the lack of detectable anatomical changes warrants further investigation to determine whether functional impairment in microtropia occurs independently of structural alterations.
