Congenital Muscular Dystrophy
These are a group of heterogeneous muscular dystrophies, with symptoms visible from birth or shortly after the birth. Some of them are progressive, while others may stabilize or even regress with time. Genetic of all these syndromes have not been studied to full extent(7). Ocular diseases are commonly associated with congenital muscular dystrophies; they can be a mild weakness of extra-ocular muscles to retinopathies and macular degeneration. Thus, some of the people may have compromised acuity while others may suffer from complete loss of vision.
Some of the common congenital muscular dystrophies are Fukuyama congenital muscular dystrophy (FCMD), Muscle eye brain disease (MEB), Walker-Warburg syndrome (WWS), Congenital muscular dystrophy 1C (MDC1C), Congenital muscular dystrophy type 1D (MDC1D).
Muscular dystrophy is a combined name for tens if not hundreds of disease entities characterized by the weakness of skeletal muscles. Thus each person suffering from MD would differ from other in disease presentation. However, what should be understood that ocular function is often compromised in the people living with MD.It could be either due to the weakening of extra-ocular muscles, a disease of blood vessels, retinopathy, or degeneration of macula. Considering the importance of vision, it is essential to identify this complication at an early stage, so that to avoid the further loss of vision.
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