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[Paediatric retinal detachment and hereditary vitreoretinal disorders]
1Universität Leipzig, Universitätsklinikum AöR, Klinik und Polilinik für Augenheilkunde, Leipzig.
Insights
Paediatric retinal detachment is rare but often linked to hereditary vitreoretinal degenerations. Early diagnosis and surgical intervention, primarily vitrectomy, are crucial for managing these inherited retinal conditions.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Context:
- Paediatric retinal detachment is significantly less common than in adults.
- Hereditary vitreoretinal degenerations are a primary predisposing factor in children.
- These conditions involve abnormal vitreous gel and retinal changes, often with other ocular and systemic abnormalities.
Purpose:
- To summarize the causes and management of inherited retinal detachment in children.
- To highlight the association between hereditary vitreoretinopathies and paediatric retinal detachment.
- To discuss diagnostic considerations and surgical treatment options.
Summary:
- Hereditary vitreoretinopathies, including Stickler syndrome and Norrie disease, are the most frequent cause of inherited retinal detachment in children.
- These disorders are characterized by vitreous and retinal abnormalities, frequently accompanied by systemic conditions.
- Primary vitrectomy is often required, with specific surgical approaches detailed.
Impact:
- Emphasizes the importance of recognizing systemic associations in diagnosing hereditary retinal disorders.
- Underscores the necessity of prompt surgical management, particularly vitrectomy, for paediatric retinal detachment.
- Provides a foundation for understanding the genetic basis and clinical presentation of inherited retinal detachment in pediatric populations.
Abstract:
The number of retinal detachments in children is very low in comparison to the number in adults. One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stickler syndrome, Wagner syndrome, Kniest dysplasia, familial exudative vitreoretinopathy, congenital X-linked retinoschisis, Knobloch syndrome, incontinentia pigmenti, Norrie disease). Hereditary vitreoretinopathies are characterised by an abnormal-appearing vitreous gel with associated retinal changes. In most of these eyes further ocular abnormalities can be diagnosed. A group of hereditary disorders is associated with characteristic systemic abnormalities. Allied conditions should be considered in the clinical diagnosis. Vitreoretinopathies are the most common cause of inherited retinal detachment. In most eyes primary vitrectomy is necessary, and disease-specific surgical treatment is discussed.
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