Retinal Pigment Abnormalities in a Woman With Diabetes
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Here presents an interesting case published in JAMA ophthalmology of 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.On examination, her best-corrected visual acuity was 20/20 OU.

The anterior segment examination findings were unremarkable except for trace nuclear sclerosis in each eye. Dilated fundus examination revealed peripapillary atrophy and scattered macular pigment clumps in each eye. Fundus autofluorescence imaging showed a reticular pattern of hyperautofluorescence with sparing of the central macula (Figure). Optical coherence tomography of the macula demonstrated hyperreflective retinal pigment epithelial (RPE) lesions with no intraretinal or subretinal fluid. Full-field electroretinography (ERG) testing was suggestive of mild cone system dysfunction in each eye.

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.

This patient and her primary care physician were informed of her genetic testing results, and she is undergoing a comprehensive medical evaluation with the guidance of a medical geneticist. The patient will be followed up annually with comprehensive retinal imaging to monitor her macular disease and to screen for diabetic retinopathy.