Essay PreviewMore ↓
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.
How to Cite this Page
"Patient With Stickler’s Syndrome." 123HelpMe.com. 25 May 2019
Need Writing Help?
Get feedback on grammar, clarity, concision and logic instantly.Check your paper »
- From the results of the numerous tests carried out according to the patient history of frothy urine with a significant oedema over a maximum period of 5 days, the patient was diagnosed with Nephrotic Syndrome. This is condition that occurs due to leakage in the kidney filtration part leading to a large amount of protein leaking from the blood into the urine. This is mainly due to fluid retention known as oedema which is as a result of low protein level in the blood. It occurs due to abnormal functioning or a part of the kidney is affected (glomeruli).... [tags: Nephrotic Syndrome]
881 words (2.5 pages)
- A patient with acute respiratory distress syndrome can present to the emergency room from home with a complain of acute onset respiratory distress or be an admitted patient in a hospital that is presenting with a worsening respiratory status or a new onset respiratory distress. According to The ARDS Definition Task Force, as cited by Rubenfeld (2012), “the clinical hallmarks are hypoxemia and bilateral radiographic opacities, associated with increased venous admixture, increased physiological dead space and decreased lung compliance” (p.... [tags: Pulmonology, Acute respiratory distress syndrome]
701 words (2 pages)
- Down syndrome is a chromosomal disorder that occurs when a baby is born with an extra chromosome in each of their cells. It is the most common of the chromosomal disorders. One in every 691 babies is born with DS (Down syndrome) and there are approximately over 400,000 people living with DS in the United States today. Although it is not genetic, it has been proven that mothers older than thirty-five are more likely to have a baby with Down syndrome. Individuals with Down syndrome have varied cognitive delays, meaning that they learn and develop slower than the average person, but they are still able to live normal lives.... [tags: Down syndrome, Chromosomal translocation]
1211 words (3.5 pages)
- Today we live in a society were appearance is everything. From what you’re wearing to the brands you buy, and even how you carry yourself. In today’s society people are always ready to judge you based on your appearance; this ultimately means bad news for those diagnosed with TS, (tourette syndrome). It is the objective of this paper to teach and make aware of what TS is how it affects the person’s life and what we can do it about. After all TS affects 1 in 1000 to 2000 people. It is a syndrome that is found among all races that affects males, more than females.... [tags: tourette syndrome, tourettes,]
2209 words (6.3 pages)
- Asperger’s Syndrome is defined as a developmental disorder related to autism and characterized by higher than average intellectual ability coupled with impaired social skills. Asperger’s Syndrome is on the same spectrum as Autism and individuals suffering from Asperger’s can display some of the same debilitating issues as those with Autism. As with Autism people suffering from Asperger’s are very intelligent, however, they may not present this knowledge due to their disability. Even though people suffering from Asperger’s can overcome this disease and live a normal productive life, learning basic life skills, effectively communicating with people, and the ability to make friends are essentia... [tags: Asperger syndrome, Autism]
1167 words (3.3 pages)
- Nora, nine years old, was diagnosed with Asperger’s Syndrome when she was four. However in 2013, Asperger’s was not considered a syndrome separately from autism anymore, according to the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders ("Asperger 's Syndrome | Autism Society”). Now at school, Nora isn’t included with the autistic children that get extra aid during learning periods. She is very smart, but cannot get her thoughts on paper or out of her mouth.... [tags: Autism, Asperger syndrome]
1175 words (3.4 pages)
- The Hoarding Syndrome is characterized as the "excessive collecting and saving behaviors that result in a cluttered living space and significant distress or impairment" (Frost and Hart, 1996). Hoarding symptoms often begin between the ages of 10-13 (Mackin, Arean, Delucchi, & Matthews, 2011) but does not "discriminate in terms of age, gender, educational levels, or socioeconomic status" (Singh & Jones, 2013). However, researchers have found a very strong association between having a family member who has a compulsive hoarder and coming a hoarder yourself (Mayo Clinic, 2014).... [tags: Hoarding Syndrome, Excessive Collecting]
1026 words (2.9 pages)
- Metabolic Syndrome (syndrome X, insulin resistance syndrome) is the name for a group of risk factors that raises your risk for diabetes mellitus (DM), cardiovascular disease (CVD), and other health problems, such as diabetes and stroke.2 It is characterized by abdominal obesity, insulin resistance, hypertension, low HDL, and elevated triglycerides. Some hallmarks of metabolic syndromes are dyslipidemia, central adiposity, and a predisposition to atherosclerotic cardiovascular disease, certain cancers, hypertension, and type 2 diabetes mellitus.... [tags: insulin, diabetes, metabolic syndrome]
657 words (1.9 pages)
- Katz Index of Independence in Activities of Daily Living is utilized to assess whether or not a patient is able to live alone independently or needs assistance from others. This assessment tool allows the nurse to assign one point based on how many activities, such as “bathing, toileting, dressing, transferring, continence, and feeding,” the patient can do independently, (Tabloski, 2010, p. 14). R.H. was assessed using this assessment tool. He scored a six which indicates that he is fully independent.... [tags: Nursing, Nursing care plan, Patient, Assessment]
1464 words (4.2 pages)
- Consultation in Conjunction with Patient Characteristics Each patient may exhibit unique qualities, which would require a clinical nurse specialist’s (CNS) distinctive skillset to interpret and provide insight to healthcare providers. These qualities or patient characteristics, described in the American Association of Critical Care Nurses (AACN) synergy model, melded with consultation concepts by the CNS, can influence patient care. This paper will describe a patient situation, the patient characteristics demonstrated by the patient, consultation concepts, and how the characteristics and concepts affect patient outcomes.... [tags: Acute respiratory distress syndrome]
1158 words (3.3 pages)
- The Taiwanese Culture and Identity - Current Relationship with the Chinese
- The Benefits of Producing and Eating Organic Foods
- Role of the Pharmacist in Understanding the Culture of Disability
- Mandatory HIV Testing is Wrong
- The State of Food Insecurity in the World
- Siddharta's Journey to Self Enlightenment
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.