Ocular and Dental Features of EDS-H / JHS

 

Ocular

 

Although certainly not present all people  with EDS-H / JHS, myopia and blue(ish) sclerae are relatively common findings.

 

Myopia: Myopia is the medical term for short-sightedness. It is a very common eye condition that causes distant objects to appear blurred, while close objects can be seen clearly. Cases of short-sightedness can range from mild, where treatment may not be required, to very severe, which can significantly affect vision.The symptoms of short-sightedness often start around puberty and get gradually worse until the eye is fully grown. Therefore it's important to have regular eye examinations. 

 

Blue(ish) sclerae:  Normal sclerae (the white of the eye) is white like marble, but in EDS-H / JHS, especially in females, it can appear slightly blue.  Weakly knitted collagen fibres in the sclerae cause the membrane (sclerae) to be slightly more transparent, allowing the  bluish color of the veins of the eye to be noticed by a specialist, although most people would not generally notice this feature. Blue sclerae is seen,in varying degrees, in about 90% of EDS-H / JHS females, but is rare in males. Blue sclerae is normal in children up to 2 years of age.

 

Further, though less common, features include epicanthic folds and blepharochalasis, antimongoloid palpebral slant, unilateral ptosis, and tilted optic disc.

 

'A recent survey on 22 patients defined the JHS/EDS-HT phenotype as mostly consisting in xerophthalmia (where the eye fails to produce tears), steeper corneas, pathologic myopia, and minor lens opacities and vitreal abnormalities. Overall, ocular complaints are usually mild to moderate in JHS/EDS-HT'. These findings indicate the need for ophthalmologic survey in the assessment and management of patients with JHS/EDS-HT. (Quote: Marco Castori, Medical Genetics Dept. of Molecular Medicine 2012)

 

 

Dental

 

High, narrow palate and dental crowding are nonspecific features of most heritable disorders of connective tissue. 

 

Periodontal disease (friability, gingivitis, gum recession) occurs in some individuals with EDS (Letourneau et al 2001, Hagberg et al 2004, De Coster et al 2005, Castori et al 2010) and is no longer considered a unique subtype of EDS (Beighton et al 1998). The frequency of periodontal manifestations in the hypermobility type is undetermined. Any Periodontal disease should be identified and treated.

 

Orthodontic and palatal corrections may tend to relapse (e.g. after braces have been removed), requiring prolonged use of a retainer.

 

Temporomandibular Joint Dysfunction (TMD) is reported in up to 70% of (EDS-H / JHS) patients. Over time, Temporomadibular Joint hypermobility becomes complicated by clicks, joint pain, myofascial pain, masticatory dysfunction, and, subluxations. Similarly to other joints in EDS-H / JHS, it is likely that a primary lack of coordination (dyspraxia) of the masticatory muscles may cooperate with hypermobility in determining dysfunction.

'Temporomandibular joint (TMJ) laxity and dysfunction are difficult to treat. There are no specific interventions of proven benefit. Intra-oral devices are sometimes helpful. Oral rest (minimization of chewing and talking), local myofascial release, and muscle relaxant medications may be beneficial for acute flares. Surgical intervention is often disappointing and should be considered only as a last resort.' (Quote: Marco Castori, Medical Genetics Dept. of Molecular Medicine 2012)

 

  by edhs.info

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