Ghali et al discussed the clinical updates of Ehlers-Danlos syndromes (EDS). (1) Ophthalmic manifestations have been reported to occur in patients with EDS. These include; eyelid, (2) conjunctiva abnormalities, (3) xerophthalmia, (4) numerous morphological and ultrastructural corneal changes, (5) pathologic myopia, lens opacities, abnormalities of sclera and vitreous extracellular matrix, (4) angioid streaks, (6) retinal detachment (7) and globe perforation. (8)
Therefore, ophthalmologic consultation should be scheduled not only in EDS patients after diagnosis establishment, but in all individuals with suspected heritable connective tissue disorder to define the diagnosis better.
1. Ghali N, Sobey G, Burrows N. Ehlers-Danlos syndromes-clinical updates. BMJ 2019; 412-415.
2. Segev F, Heon E, Cole W, Wenstrup R,Young F, Slomovic A, Rootman D, Whitaker-Menezes D, Chervoneva I, Birk D. Structural abnormalities of the cornea and lid resulting from collagen V mutations. Invest Ophthalmol Vis Sci 2006; 47:565–573.
3. Whitaker J, Alexander P, Chau D, Tint N. Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome. BMC Ophthalmol 2012;12:47.
4.Gharbiya M, Moramarco A, Castori M, Parisi F, Celletti C, Celletti C, Marenco M, Mariani I, Grammatico P, Camerota F. Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study. Am J Ophthalmol 2012;154: 593-600.
5. Villani E; Garoli E; Bassotti A; Magnani F; Tresoldi L, Nucci P, Ratiglia R. The cornea in classic type Ehlers-Danlos syndrome: macro- and microstructural changes. Invest Ophthalmol Vis Sci 2013; 54: 8062-8068.
6. Green WR, Friedman-Kien A, Banfield WG. Angioid streaks in Ehlers-Danlos syndrome. Arch Ophthalmol 1966;76:197–204.
7. Bodanowitz S, Hesse L, P¨ostgens H, Kroll P. Retinal detachment in Ehlers-Danlos syndrome. Treatment by pars plana vitrectomy [in German]. Ophthalmologe 1997; 94:634–637.
8. Puri P, Gupta M, Chan J. Spontaneous perforation of the globe in Ehlers Danlos syndrome. Eye (Lond) 2001;15:553–554.
Competing interests:
No competing interests
03 October 2019
Samir Aziz Mahmood
Consultant Ophthalmologist
Watford General Hospital, Ophthalmology Department WD23 0HB, UK
Rapid Response:
Re: Ehlers-Danlos syndromes
Ocular features of Ehlers Danlos Syndrome
Ghali et al discussed the clinical updates of Ehlers-Danlos syndromes (EDS). (1) Ophthalmic manifestations have been reported to occur in patients with EDS. These include; eyelid, (2) conjunctiva abnormalities, (3) xerophthalmia, (4) numerous morphological and ultrastructural corneal changes, (5) pathologic myopia, lens opacities, abnormalities of sclera and vitreous extracellular matrix, (4) angioid streaks, (6) retinal detachment (7) and globe perforation. (8)
Therefore, ophthalmologic consultation should be scheduled not only in EDS patients after diagnosis establishment, but in all individuals with suspected heritable connective tissue disorder to define the diagnosis better.
1. Ghali N, Sobey G, Burrows N. Ehlers-Danlos syndromes-clinical updates. BMJ 2019; 412-415.
2. Segev F, Heon E, Cole W, Wenstrup R,Young F, Slomovic A, Rootman D, Whitaker-Menezes D, Chervoneva I, Birk D. Structural abnormalities of the cornea and lid resulting from collagen V mutations. Invest Ophthalmol Vis Sci 2006; 47:565–573.
3. Whitaker J, Alexander P, Chau D, Tint N. Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome. BMC Ophthalmol 2012;12:47.
4.Gharbiya M, Moramarco A, Castori M, Parisi F, Celletti C, Celletti C, Marenco M, Mariani I, Grammatico P, Camerota F. Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study. Am J Ophthalmol 2012;154: 593-600.
5. Villani E; Garoli E; Bassotti A; Magnani F; Tresoldi L, Nucci P, Ratiglia R. The cornea in classic type Ehlers-Danlos syndrome: macro- and microstructural changes. Invest Ophthalmol Vis Sci 2013; 54: 8062-8068.
6. Green WR, Friedman-Kien A, Banfield WG. Angioid streaks in Ehlers-Danlos syndrome. Arch Ophthalmol 1966;76:197–204.
7. Bodanowitz S, Hesse L, P¨ostgens H, Kroll P. Retinal detachment in Ehlers-Danlos syndrome. Treatment by pars plana vitrectomy [in German]. Ophthalmologe 1997; 94:634–637.
8. Puri P, Gupta M, Chan J. Spontaneous perforation of the globe in Ehlers Danlos syndrome. Eye (Lond) 2001;15:553–554.
Competing interests: No competing interests