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It is likely that the Marcus Gunn syndrome is related to the clinical features of EDS. There may be other eye and/or systmic clinical features for which he is at risk of developing as a result of the this syndrome, including early development of cataract, lens
dissoclation, corneal astigmatism with focusing difficulty, near-sightedness (myopia
) retinal/macular changes and aortic aneursym. Ehlers-Danlos syndrome type III is inherited through autosomal dominant pattern, meaning that there is 50% chance of the disease in the offspring of the a parent with the disease. In type 3 EDS, while there may be striking joint hypermobility, there tend to be minimal skin changes. The MRI is designed to exclude any associated brain anomaly including aneursym (weakened brain blood vessels that may be bulging - and at risk for rupture). Other syndromes that may have some features of EDS include hyperlysinemia, marfan syndrome
, sulfite oxidase deficiency - these are unlikely if the work-up has confirmed EDS type 3. If there is any clinical retinal/macular degeneration, regular close retinal monitor is recommendation to allow prompt treatment intervention to maintain good vision. In addition, it may be worthwhile to consider starting vitamin supplements scuh as PreserVision or I-caps shown to significantly delay the progression of macular degeneration.
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