Uveal Melanoma Associated With Myotonic Dystrophy

Dalvin, Lauren A; Shields, Carol L.; Pulido, José S.; Sioufi, Kareem; Cohen, Victoria M L; Shields, Jerry A.

doi:10.1001/jamaophthalmol.2018.0554

Cited by 12 publications

(21 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Whether the risk of developing a neoplasm is increased in MD2 is under debate [3]. However, melanoma has been repeatedly reported in patients with MD1 [4]. There are also indications that MD1 predisposes for the development of basal cell carcinoma [5].…”

Section: Discussionmentioning

confidence: 99%

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Finsterer

Stöllberger

Reining-Festa

et al. 2018

Balkan Journal of Medical Genetics

View full text Add to dashboard Cite

Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association with hyperlipidemia and diabetes, as a manifestation of MD2 has not been reported. A 52-year-old female with a history of hyper-CKemia since the age of 32 years associated with diabetes, hyperlipidemia and hyperuricemia, developed anginal chest pain and proximal muscle weakness together with clinical myotonia when opening the fists at age 51 years. Examination revealed a left anterior hemiblock, sensorimotor neuropathy, extensive myotonic discharges on needle electromyography (EMG) and a CCTG-expansion of 134 bp on the ZNF9 gene. The family history was positive for hyper-CKemia and muscle weakness. In addition, over the previous years, she had developed vesico-ureteral reflux, cutaneous melanoma, renal cysts, cervix dysplasias, thrombocytosis, cataracts, arterial hypertension, heterozygous Factor V Leiden mutation, cholecystolithiasis, multiple ovarial cysts and vitamin D deficiency. Asymptomatic, long-term hyper-CKemia in association with multisystem disease should raise the suspicion of a MD2. Rare manifestations of MD2 may be thrombocytosis, hyperuricemia, vesico-ureteral reflux, gallstones, hypertension and cyst formation. In patients with asymptomatic hyper-CKemia, needle EMG should be considered. Myotonic dystrophy type 2 may take a mild course over many years if the CCTG-expansion is short.

show abstract

Section: Discussionmentioning

confidence: 99%

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Finsterer

Stöllberger

Reining-Festa

et al. 2018

Balkan Journal of Medical Genetics

View full text Add to dashboard Cite

show abstract

“…37 Uveal melanoma Case report of 6 DM eyes found majority (83%) had choroidal versus iris (17%) melanoma. 15 Both 27-fold increase in risk of ocular melanoma in DM patients than general population. Ensure a thorough dilated exam of entire choroid and iris.…”

Section: Ocular Featuresmentioning

confidence: 99%

“…14 Malignancies are also associated with this disease in both type 1 and type 2 ranging from choroidal melanoma, non-Hodgkin lymphoma, and neoplasms of the brain, thyroid, colon and reproductive organs of both males and females. [15][16][17] These cancers make up 10% of deaths associated with DM compared to the 40% from respiratory and cardiac complications. 10,13,15 Respiratory failure is the leading cause of death with cardiac conduction abnormalities the second leading cause.…”

Section: Systemic Featuresmentioning

confidence: 99%

“…[15][16][17] These cancers make up 10% of deaths associated with DM compared to the 40% from respiratory and cardiac complications. 10,13,15 Respiratory failure is the leading cause of death with cardiac conduction abnormalities the second leading cause. 13 Only about 18% of DM1 patients live to the age of 65 compared to those with DM2 who tend to have a normal life expectancy.…”

Section: Systemic Featuresmentioning

confidence: 99%

See 1 more Smart Citation

Ocular Features and Clinical Approach to Cataract and Corneal Refractive Surgery in Patients with Myotonic Dystrophy

Moshirfar¹,

Webster²,

Seitz³

et al. 2022

OPTH

View full text Add to dashboard Cite

Myotonic dystrophy is the most common inherited muscular dystrophy in adults and presents as two forms, type 1, and type 2. Ocular manifestations such as premature cataract formation, may be the first diagnostic sign or symptom of the disease, offering ophthalmologists a unique diagnostic role. Fuchs' endothelial corneal dystrophy, ptosis and ocular melanoma are other possible findings. Systemic features can help providers better understand the disease and any accommodations to be made in clinical or surgical settings. Some patients with this disease may request evaluation of certain cataract or corneal refractive procedures. This article focuses on pertinent information for clinicians to utilize when evaluating and treating patients with myotonic dystrophy and specific surgical perspectives to consider prior to any ocular interventions. Hydrophobic intraocular lenses are still recommended in these patients with careful observation of capsular phimosis and posterior capsular opacities.

show abstract

“…Several studies have shown that patients with DM1 have a greater risk of developing cancer than the general population, specifically melanoma and cancers of the thyroid, colon, and uterus, 93-95 contributing to increased mortality 94 . An association between DM1 and uveal melanoma has been recently reported 96 . Pilomatricomas are benign skin tumors that can be seen in DM1 97,98 .…”

Section: Clinical Spectrum and Management Of Myotonic Dystrophy Types...mentioning

confidence: 99%

Myotonic Dystrophy

Hamel¹

2022

CONTINUUM: Lifelong Learning in Neurology

View full text Add to dashboard Cite

PURPOSE OF REVIEW: Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and other organs. The multisystem involvement and disease variability of myotonic dystrophy have presented challenges for clinical care and research. This article focuses on the diagnosis and management of the disease. In addition, recent advances in characterizing the diverse clinical manifestations and variability of the disease are discussed.RECENT FINDINGS: Studies of the multisystem involvement of myotonic dystrophy, including the most lethal cardiac and respiratory manifestations and their molecular underpinnings, expand our understanding of the myotonic dystrophy phenotype. Advances have been made in understanding the molecular mechanisms of both types of myotonic dystrophy, providing opportunities for developing targeted therapeutics, some of which have entered clinical trials in DM1.SUMMARY: Continued efforts focus on advancing our molecular and clinical understanding of DM1 and DM2. Accurately measuring and monitoring the diverse and variable clinical manifestations of myotonic dystrophy in clinic and in research is important to provide adequate care, prevent complications, and find treatments that improve symptoms and life quality.

show abstract

Uveal Melanoma Associated With Myotonic Dystrophy

Cited by 12 publications

References 10 publications

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion

Ocular Features and Clinical Approach to Cataract and Corneal Refractive Surgery in Patients with Myotonic Dystrophy

Myotonic Dystrophy

Contact Info

Product

Resources

About