Patient With Stickler’s Syndrome

Patient With Stickler’s Syndrome

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Stickler’s syndrome is a group of genetic disorders which affects the collagen biosynthesis gene. This disrupts the metabolism of hyaluronic acid and the collagen of the 2-D type and affects connective tissue in the body, specifically that of collagen. The estimated prevalence of Sticklers syndrome is about 1 in 10,000 people and it affects 1 in 7500 to 9000 newborns. Those who are affected with Stickler’s syndrome are at risk of developing facial abnormalities, ocular problems such as glaucoma, high myopia, retinal detachment, vitreous humour abnormalities, joint problems and hearing loss. The typical course of this disease is gradual worsening of visual acuity, glaucoma and retinal detachment.

In this case, we have a 44 y/o male patient who has Stickler’s syndrome and was previously a truck driver. He was referred in by an ophthalmologist for advise in regards to low vision aids, with his goal to improve his distance acuity to drive.

At initial consultation, best corrected visual acuity was 6/48 in the right eye and 6/95 left eye. Reading visual acuity was N64 in both eyes at 45 cm. Our patient was diagnosed with his condition 7 years ago, with gradual reduction in vision in the last 3 years. Refraction was RE plano and LE -1.50/-1.50x180. Fundus examinations revealed vitreous veils in both eyes, with some mild optic atrophy and peripheral lattice degeneration. Slit lamp examinations of the anterior eye were unremarkable.

Management of this patient included prescribing low vision aids to aid in distance acuity for everyday use excluding driving, with regular half yearly reviews recommended. Low vision aid prescribed included a 6x spiral Galilean bioptic telescope. A low vision aid for reading was not prescribed, however it was advised that one could be prescribed if he developed the need for one. Referral to an accredited low vision occupational therapist driving assessor in the Brisbane region was also warranted for advice and assistance in driving. Due to his financial
Due to family history of retinal detachments (two sisters in family had retinal detachment) and the presence of peripheral lattice degeneration, a yearly review was advised for the patient. He was also advised that if he experiences any visual disturbances associated with retinal detachments, such as flashes and floaters, that he come in straight away for a consultation.

Due to the progressiveness of this disease, our patient’s vision is likely to worsen in the gradual years ahead.

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Visual acuity is likely to decrease overtime, and any improvement is unlikely due to the ocular pathologies that are present. Therefore it is imperative that the patient comes in for regular annual eye examinations, especially if there is a risk of retinal detachment.

There are several differential diagnosis that need to be made with Stickler syndrome, however the main diseases that are often mistaken are other similar collagenopathies such as Wagner’s syndrome, Marshall syndrome and Weissenbacher-Zweymuller syndrome. Wagner’s syndrome usually presents with very similar ocular manifestations, however it does not include the extraocular signs associated with Stickler’s syndrome such as facial and joint abnormalities. This could be due to the different site of gene mutation, as Stickler syndrome affects the COL family of genes, it appears Wager syndrome affects the locus on the chromosome 5q13-14, although both have the same mode of inheritance. Marshall syndrome is an autosomal dominant, but rare disease which afflicts the skeletal structure, and has similar characteristics found in Sticklers, however by looking at the radiographic images of facial structures, small differences in the midface can help differentiate, however it is difficult to presume.


Some of the many challenges that were faced when presented with this case, was of the patient’s overall expectation of improved distance acuity for driving. For a patient, it is easy to assume that a visit to the optometric clinic would yield a solution to remedy the driving issue. Advice and proper education on the driving standards and the available technology is vital for the patient in order to dispel any assumptions made on behalf of the patient. In this case, our patient was looking at obtaining a low vision device which would allow him to meet the criteria to drive on the road with an unconditional license. Our patient was advised that even if a visual aid was given for driving, there was no guarantee that he would be able to obtain the license, as his driving skill still needed to be assessed by an accredited OT driving assessor. He was also advised that although the visual aid would magnify his vision and allow him to see somewhat finer detail, his peripheral vision could be reduced, which would present another hazard to safe driving.

According to the driving standards in Queensland, private drivers must have at least 6/12 visual acuity in one or both eyes. Therefore an unconditional license cannot be granted period, however a conditional license can be held for the patient if he chooses to wear spectacles.
At this moment, there is no known medical treatment for the condition; however there are treatment options to prevent associated retinal detachments. In regards to low vision aids in driving, a potential treatment that could present a viable option for safe driving would be the BiOptic visual aid, which is in current clinical trials in the USA. The BiOptic visual aid is used to improve distance vision for those with severely impaired eyesight, especially those with ocular albinism. However the use of this device is not under any policy and the safety of drivers using these devices is limited and controversial. Yet it may still be a viable option, provided that the driving skill and the driver’s vision is regularly monitored.


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