Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation.
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Date
2016-07
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Abstract
We report two cases of myotonic dystrophy in one family;
both diagnosed from genetic analysis following ophthalmic
indications, but before the manifestation of systemic symptoms.
A 39‑year‑old female visited our clinic for routine examination.
Mild ptosis, sluggish pupillary response, and bilateral snowflake
cataracts were found. Fundus examination revealed an increased
cup‑to‑disc ratio (CDR) in both eyes and a defect in the retinal
nerve fiber layer in the right eye. Intraocular pressure was low,
but within the normal range in both eyes. Because cataracts are
characteristic of myotonic dystrophy, we suggested that her
14‑year‑old daughter, who did not have any systemic complaints,
undergo ophthalmic examination. She also had mild ptosis and
snowflake cataracts. Both patients underwent genetic evaluation
and were diagnosed with myotonic dystrophy caused by
unstable expansion of cytosine‑thymine‑guanine trinucleotide
repeats in the dystrophia myotonica‑protein kinase gene.
Ophthalmologists can diagnose myotonic dystrophy based on
clinical and genetic findings, before the manifestation of systemic
abnormalities.
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Keywords
Blepharoptosis, cataract, genes, myotonic dystrophy
Citation
Kang Min Ji, Yim Hye Bin, Hwang Hyung Bin. Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation. Indian Journal of Ophthalmology. 2016 July; 64(7): 535-537.