A short-sighted approach to high myopia—not just an eye problem

Burgess, Frederick R.; Carroll, Nicola; Young, Su Ling; Schmoll, Conrad; Lampe, Anne Katrin; Chan, Jonathan C.H.

doi:10.1016/j.jaapos.2021.03.005

Cited by 1 publication

(2 citation statements)

References 9 publications

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“…When Loeys-Dietz syndrome was first described, the only notable ophthalmic features were hypertelorism and strabismus (Loeys et al, 2005). Subsequent studies have identified further ocular involvement including decreased central corneal thickness, mild myopia, and ectopia lentis (Braverman et al, 2020;Burgess et al, 2021; F I G U R E 1 Loeys-Dietz syndrome family pedigree. The proband is indicated by the black arrow and filled shapes indicate affected individuals Busch et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

“…When Loeys–Dietz syndrome was first described, the only notable ophthalmic features were hypertelorism and strabismus (Loeys et al, 2005). Subsequent studies have identified further ocular involvement including decreased central corneal thickness, mild myopia, and ectopia lentis (Braverman et al, 2020; Burgess et al, 2021; Busch et al, 2017). However, ophthalmic abnormalities are generally considered rare in LDS, unlike its close clinical associate Marfan syndrome, where the risk of retinal detachment is known to be significant.…”

Section: Discussionmentioning

confidence: 99%

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Retinal detachment in Loeys–Dietz syndrome

Maghsoudi

Nixon

Snead

2022

American J of Med Genetics Pt A

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Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective-tissue disorder with vascular and musculoskeletal abnormalities similar to Marfan syndrome. However, unlike Marfan, retinal detachment (RD) is rarely reported, and screening protocols do not currently feature ophthalmic assessment or RD counseling. We report a 5-generation family affected by LDS, where RD occurred in six eyes of four individuals.The proband was an 84-year-old male recently diagnosed with type-V LDS (TGFβ3 pathogenic variant c.899G>A, p.(Arg300Gln)). Further investigation was undertaken into the family's medical history. The proband experienced bilateral rhegmatogenous RD at age 60, requiring emergency surgical repair. Other notable ophthalmic features include unusual keratometry, abnormal biometry, and severe hayfever requiring longterm sodium cromoglycate treatment. The proband's sister, father, and uncle had also experienced RDs, all prior to LDS diagnosis. This series demonstrates that RD risk may be significant in LDS, and on occasion the presenting clinical feature. We suggest ophthalmic examination should be added to the initial assessment LDS patients, and patients informed of the early warning symptoms of retinal detachment. As in Marfan syndrome, LDS patients may exhibit cornea plana and abnormal corneal topography, producing atypical biometry. They may also present with allergic conjunctivitis, and awareness of these signs might facilitate earlier diagnosis.

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