Intractable Rare Dis Res. 2018;7(4):295-296. (DOI: 10.5582/irdr.2018.01120)

What is the Ocular phenotype associated with a dystrophin deletion of exons 12-29?

Brignol TN, Ventura DF


Duchenne muscular dystrophy (DMD) is a result of a X-linked recessive inherited mutation of the DMD gene which contains 79 exons. This rare disease is passed on by the mother who is called a carrier. Primarily it affects boys, but in rare cases it can affect girls. Dystrophin protein is mostly located in skeletal and cardiac muscles, which explains muscular and cardiac manifestations in symptomatic female DMD-carriers. Dystrophin is also present in extramuscular tissues. Some dystrophin isoforms are exclusively or predominantly expressed in the brain or the retina. It has been reported that DMD patients and DMD-carriers present normal visual acuity, but abnormal electroretinographic findings. As symptomatic female DMD are very rare, ophthalmic screening of the female patient with deletions of exons 12-29 is valuable. Studying the functional relationship between ocular symptoms and related different deletions of exons dystrophin gene may further elucidate the pathophysiology in DMD.

KEYWORDS: Duchenne muscular dystrophy, female carrier, ophthalmology, retina, electroretinogram

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