This review sought to clarify some of the heritable elements of rhegmatogenous retinal detachment (RRD). The familial element of RRD is well established, with the sibling recurrence risk ratio being 2.1 (Mitry and colleagues), and the parent-offspring recurrence risk ratio being 2.9. Myopia is probably the most well recognised risk factor for RRD. At least 50 genetic loci have been associated with myopia, with variable inheritance patterns. One of the first is MYP discovered by Schwartz et al. in 1990. Additionally COL2A1 has been associated with myopia via genome wide association studies (GWAS). Lattice degeneration is equally a recognised risk factor in developing RRD, being present in as many as 30% of patients with RRD. The gene COL4A4 has been identified via GWAS studies, coding for the alpha-4 chain of type IV collagen. In addition to these risk factors, the review also recognises the importance of syndromic RRD, with specific reference to Stickler syndrome which affects type II and XI collagen fibrils. The COL2A1 gene has also been associated with a possible ocular only phenotype of Stickler syndrome. Non-syndromic RRD is less well understood, though mutations have been discovered in COL2A1 in the absence of typical Stickler features. Overall, this review article recognises the firm genetic association with RRD and the potential benefits going forward such as targeted screening programmes.

Current understanding of the genetic architecture of rhegmatogenous retinal detachment.
Johnston T, Chandra A, Hewitt AW.
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Huw Edward Oliphant

West Sussex NHS Trust, UK

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