Cataracts are a common problem with Myotonic dystrophy. Often it will be the first symptom of the disease. These are easy treatable with replacements often at a low-cost.
|Yichieh Shiuey, MD and Theresa C. Chen, MD
Massachusetts Eye and Ear Infirmary, Harvard Medical
School, Boston, MA
What type of cataract is this?
Answer: Christmas tree cataract.
What systemic medical condition is classically associated with these lens findings?
Answer: Myotonic dystrophy
What other ocular findings may this patient have?
Answer: Ptosis, orbicularis weakness, progressive external ophthalmoplegia, and pigmentary retinopathy similar to that of Kearn’s Sayre syndrome. Aside from Christmas tree cataracts which contain multicolored iridescent crystals, patients with myotonic dystrophy may also have spokelike cortical opacities along the suture line.
What general physical examination findings may this patient have?
Answer: Myotonia is the often the first detectable physical exam finding. This may be strikingly demonstrated by shaking hands with the patient. The patient may not be able to release his or her grip. Patients with myotonic dystrophy may also have weakness of the limb muscles, particularly the leg extensors. Atrophy of limb muscles may also be apparent on inspection. Men in this condition often have early onset of frontal baldness.
What is the inheritance pattern of this systemic medical condition?
Answer: autosomal dominant
|A Call for Cataract Samples|
|The early appearance of cataracts is an important feature of Myotonic Dystrophy and is often the only obvious symptom in those only mildly affected. This suggests that the lens of the eye is particularly sensitive to Myotonic Dystrophy making it an important target for research.The Norwich Eye Research Groupheaded by Professor George Duncan is one of the foremost centres for lens research in the world. The causes of cataract as well as the development of improved treatments are the central themes of our work. As a member of the group I am heading the Cataract in Myotonic Dystrophy Project.To carry out our research we would like to obtain tissue samples from people with Myotonic Dystrophy. During a normal cataract operation a small piece of tissue is removed from the front of the lens and discarded by the surgeon. At no inconvenience to the patient this small piece of tissue, can be preserved and would be sufficient for us to carry out some extremely valuable work. Not only will it help us to understand how Myotonic Dystrophy causes cataract in the lens but it could give us more fundamental information about the disease as a whole.
Without your support this type of research would not be possible. So can I ask that if you are considering having a cataract operation you contact us either directly here in Norwich (email@example.com) or via the Myotonic Dystrophy Foundation in Palo Alto , CA and we will arrange with your Ophthalmic consultant for collection of the samples.
Dr. Jeremy D. Rhodes.
The Norwich Eye Group, School of Biological Sciences, University of East Anglia, Norwich, NR4 7TJ, UK