Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram

Response to comments on: Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram

“… We fully agree that one of the limitations of our report[ 2 ] is that the heteroplasmy rate was not analyzed. Heteroplasmy rate is the proportion of mutated mitochondrial deoxyribonucleic acid (DNA) (mtDNA) to wild type mtDNA.…”

“… Mother of the index patient denied genetic workup and detailed investigation for multisystemic disease. As mentioned in our paper,[ 2 ] she had both diabetes mellitus and hearing loss ('Her mother and maternal aunt had developed diabetes and deafness before the age of 40 years'). As mentioned in the paper, 'The absence of systemic complaints in the siblings and son of the index case may be related to clinical variability due to heteroplasmy.…”

“…She was a known case of coronary artery disease and diabetes mellitus as mentioned in our paper. [ 2 ] Thus, mitochondrial whole genome sequencing could not be performed after we received the response from Dr. Finsterer in January 2020. Mother of the index patient denied genetic workup and detailed investigation for multisystemic disease.…”

“…Hence, we believe the conclusion of our work remains unchanged. However, we admit that the limitations of our paper[ 2 ] include the absence of whole mitochondrial genome sequencing (not done primarily due to financial constraints) and the nonavailability of a detailed workup for multisystemic disease in the mother of the index case (due to denial of consent by the patient).…”

Comments on: Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram

“…about a 47-year-old female with hypoacusis, diabetes, and ischemic heart disease attributed to the mtDNA variant m.3243A>G in MT-TL1 . [ 1 ] Ophthalmologic investigations revealed areas of foveal atrophy and hypoautofluorescence, depression of inner retinal surface, pseudocysts, thinning of the outer retina, outer retinal tabulation, loss of external limiting membrane and thinning of retinal pigment epithelium, and choriocapillaris. [ 1 ] Retinal and choreal abnormalities were interpreted as subclinical involvement in the mitochondrial disorder (MID).…”