Macular findings expedite accurate diagnosis of MIDD in a young female patient with newly diagnosed diabetes

Abstract

Purpose: To report a case of a 34-year-old female patient with newly diagnosed Maternally Inherited Diabetes and Deafness (MIDD) in the setting of undifferentiated macular dystrophy and newly discovered diabetes.

Observations: A 34-year-old woman presented to the retina service with new-onset diabetes and a history of hydroxychloroquine use. Ophthalmologic examination showed findings early in the patient's presentation that within the context of her recent diabetes diagnosis and family history pointed to MIDD as the specific cause of the patient's many different symptoms. This diagnosis was further supported through obtaining previous ophthalmic images of the patient's mother demonstrating circular areas of geographic atrophy seen in advanced MIDD, and the diagnosis was confirmed through genetic testing.

Conclusions and importance: As was observed in the patient discussed in this manuscript, recognition of macular dystrophy findings suggestive of MIDD can hasten a timely diagnosis for a patient with diabetes of unspecified etiology. Additionally, knowledge of the underlying cause being MIDD can optimize care for patients in terms of treatment, understanding their risk for various diabetes complications, screening for additional systemic manifestations, and initiating valuable genetic counseling for patients and their families. Given these factors and the surprisingly high prevalence of MIDD among diabetes patients, increased awareness of MIDD and its manifestations can help to optimize diagnosis and management for these patients.

Keywords: Diabetes; Dystrophy; MIDD; Mitochondrial; Retina.