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Knobloch syndrome: a rare cause of paediatric retinal detachment
Canadian Journal of OphthalmologyVol. 56Issue 3p213–214Published online: November 13, 2020- Santiago Montolío-Marzo
- Elisa Carreras
- Jaume Catalá-Mora
Cited in Scopus: 0Knobloch syndrome is a very rare disease characterized by the following triad: occipital defect, high myopia, and retinal detachment. It is caused by COL18A mutation, inherited in an autosomal recessive pattern.