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Retinal Pigment Abnormalities in a Woman With Diabetes

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

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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Article Information

Corresponding Author: Nieraj Jain, MD, Department of Ophthalmology, Emory University School of Medicine, 1365B Clifton Rd, NE, Ste 2400, Atlanta, GA 30322 (nieraj.jain@emory.edu).

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.

References
1.
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2.
Murphy  R, Turnbull  DM, Walker  M, Hattersley  AT.  Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.  Diabet Med. 2008;25(4):383-399. doi:10.1111/j.1464-5491.2008.02359.xPubMedGoogle ScholarCrossref
3.
Naing  A, Kenchaiah  M, Krishnan  B,  et al.  Maternally inherited diabetes and deafness (MIDD): diagnosis and management.  J Diabetes Complications. 2014;28(4):542-546. doi:10.1016/j.jdiacomp.2014.03.006PubMedGoogle ScholarCrossref
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Tsang  SH, Aycinena  ARP, Sharma  T. Mitochondrial disorder: maternally inherited diabetes and deafness. In: Tsang  S, Sharma  T, eds.  Atlas of Inherited Retinal Diseases: Advances in Experimental Medicine and Biology. Vol 1085. New York, NY: Springer; 2018:163-165. https://link.springer.com/chapter/10.1007%2F978-3-319-95046-4_31. Accessed June 1, 2019. doi:10.1007/978-3-319-95046-4_31
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Rath  PP, Jenkins  S, Michaelides  M,  et al.  Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence.  Br J Ophthalmol. 2008;92(5):623-629. doi:10.1136/bjo.2007.131177PubMedGoogle ScholarCrossref
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Bellmann  C, Neveu  MM, Scholl  HP,  et al.  Localized retinal electrophysiological and fundus autofluorescence imaging abnormalities in maternal inherited diabetes and deafness.  Invest Ophthalmol Vis Sci. 2004;45(7):2355-2360. doi:10.1167/iovs.03-1090PubMedGoogle ScholarCrossref
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Pearce  WA, Chen  R, Jain  N.  Pigmentary maculopathy associated with chronic exposure to pentosan polysulfate sodium.  Ophthalmology. 2018;125(11):1793-1802. doi:10.1016/j.ophtha.2018.04.026PubMedGoogle ScholarCrossref
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Hanif  AM, Yan  J, Jain  N.  Pattern dystrophy: an imprecise diagnosis in the age of precision medicine.  Int Ophthalmol Clin. 2019;59(1):173-194. doi:10.1097/IIO.0000000000000262PubMedGoogle ScholarCrossref
9.
Suzuki  S, Hinokio  Y, Ohtomo  M,  et al.  The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation.  Diabetologia. 1998;41(5):584-588. doi:10.1007/s001250050950PubMedGoogle ScholarCrossref
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