J Clin Med. 2025 Nov 20;14(22):8236. doi: 10.3390/jcm14228236.
ABSTRACT
Background: Retinal dystrophies are often challenging to diagnose. At early stages, they may resemble benign retinal pigment epithelium alterations and drusen present in otherwise healthy individuals. With the increased incidence of autoimmunity-related disorders and new treatments for retinal dystrophies on the horizon, thorough investigations and making the correct diagnosis in time are particularly important for these patients. Case report: A 44-year-old myopic female was admitted to the Ophthalmology Department with a 3-week history of painless blurred vision in her right eye. Fundoscopic examination revealed the presence of optic disc edema in this eye with pigmentary and atrophic changes in the macular regions of both eyes. She had no prior ophthalmic history nor systemic comorbidities known at the time. Marked hyperglycemia and renal angiomyolipoma were discovered subsequently. Ultimately, a diagnosis of Maternally Inherited Diabetes and Deafness was made. Discussion and Conclusion: Maternally Inherited Diabetes and Deafness is a rare mitochondrial disorder that should be considered in the differential diagnosis of retinal dystrophies, particularly due to multi-organ syndromes they can occur with, requiring collaborative medical care of several specialists. Integrating the findings and comparing them with other online sources facilitates clinical differential and treatment selection, eventually promoting faster accurate diagnosis of patients. It is especially important because of a long waiting time for results of genetic testing, while ophthalmic pathology can be the first sign of the disease.
PMID:41303269 | DOI:10.3390/jcm14228236