Dear editor
I congratulate the authors on their retrospective study of rhegmatogenous retinal detachment in patients (mostly children) diagnosed with Stickler syndrome in Saudi Arabia.1 However, I would like to point out that this work would more appropriately be considered a retrospective study of vitreoretinopathies in general rather than of Stickler syndrome specifically because a percentage of cases were likely recessive vitreoretinopathies. In my experience, children in Saudi Arabia with pediatric retinal detachment and high myopia are often labeled as having Stickler syndrome while in fact recessive vitreoretinopathies such as Knobloch syndrome2 or LRPAP1-related high myopia3 comprise a significant percentage of cases. In addition, even when a child from Saudi Arabia truly has Stickler syndrome, it is typically a special recessive form of vitreoretinopathy from a biallelic collagen gene mutation rather than the classic autosomal dominant Stickler syndrome that is recognized worldwide and is due to a heterozygous COL2A1 mutation (unpublished data, 2004–2015).
Footnotes
Disclosure
The author reports no conflicts of interest or financial disclosures in this communication.
References
- 1.Alshahrani ST, Ghazi NG, Al-Rashaed S. Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia. Clin Ophthalmol. 2015;10:1–6. doi: 10.2147/OPTH.S91444. eCollection 2016. [DOI] [PMC free article] [PubMed] [Google Scholar]
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