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A 49-year-old woman presented for evaluation of abnormal retinal pigmentation and concern for cancer-associated retinopathy. The patient reported having difficulty with night driving owing to glare. She reported no other ocular history. The patient’s medical history was significant for type 2 diabetes diagnosed in her 30s and managed with metformin therapy, hypertension, mild hearing loss, and thyroid cancer that was in remission following thyroidectomy and radiotherapy. The patient had been told that radioactive iodine therapy damaged her pancreas and predisposed her to diabetes. The patient denied exposure to retinotoxic drugs.
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Maternally inherited diabetes and deafness syndrome
C. Obtain a family medical history and pursue genetic testing
On further questioning, the patient noted that her brother had a previous diagnosis of pattern dystrophy as well as early-onset hearing loss. Her mother had received cochlear implants for hearing loss, and her maternal grandmother had hearing loss and early-onset diabetes. In addition, 2 of her 3 maternal aunts and uncles had early-onset hearing loss. The patient’s clinical presentation as well as her maternal family history of diabetes, hearing loss, and retinal disease were suggestive of maternally inherited diabetes and deafness (MIDD). Mitochondrial DNA testing revealed an m.3243A>G mutation in the MT-TL1 gene (OMIM 590050), characteristic of MIDD.
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Corresponding Author: Nieraj Jain, MD, Department of Ophthalmology, Emory University School of Medicine, 1365B Clifton Rd, NE, Ste 2400, Atlanta, GA 30322 (firstname.lastname@example.org).
Published Online: January 23, 2020. doi:10.1001/jamaophthalmol.2019.4992
Conflict of Interest Disclosures: None reported.
Funding/Support: Dr Jain reported receiving salary support from Career Development Award CD-C-0918-0748-EEC from the Foundation Fighting Blindness.
Role of the Funder/Sponsor: The Foundation Fighting Blindness had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: We thank the patient for granting permission to publish this information.
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