|Title||Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders.|
|Publication Type||Journal Article|
|Year of Publication||2020|
|Authors||Oh, Jin Kyun, de Carvalho Jose Ronaldo Li, Nuzbrokh Yan, Ryu Joseph, Chemudupati Teja, Mahajan Vinit B., Sparrow Janet R., and Tsang Stephen H.|
|Journal||Invest Ophthalmol Vis Sci|
|Date Published||2020 Oct 01|
Purpose: The purpose of this paper was to discuss manifestations of primary mitochondrial dysfunctions and whether the retinal pigment epithelium or the photoreceptors are preferentially affected.
Methods: A retrospective analysis was performed of patients with clinically and laboratory confirmed diagnoses of maternally inherited diabetes and deafness (MIDD) or Kearns-Sayre syndrome (KSS). Patients underwent full ophthalmic examination, full-field electroretinogram, and multimodal imaging studies, including short-wavelength autofluorescence, spectral domain-optical coherence tomography, and color fundus photography.
Results: A total of five patients with MIDD and four patients with KSS were evaluated at two tertiary referral centers. Mean age at initial evaluation was 50.3 years old. Nascent outer retinal tubulations corresponding with faint foci of autofluorescence were observed in two patients with MIDD. Characteristic features of this cohort included a foveal sparing phenotype observed in 13 of 18 eyes (72%), global absence of intraretinal pigment migration, and preserved retinal function on full-field electroretinogram testing in 12 of 16 eyes (75%). One patient diagnosed with MIDD presented with an unusual pattern of atrophy surrounding the parapapillary region and one patient with KSS presented with an atypical choroideremia-like phenotype.
Conclusions: MIDD and KSS are phenotypically heterogeneous disorders. Several features of disease suggest that primary mitochondrial dysfunction may first affect the retinal pigment epithelium followed by secondary photoreceptor loss. Similarities between primary mitochondrial degenerations and retinal disorders, such as age-related macular degeneration may suggest a primary role of mitochondria in the pathogenesis of these oligogenic disorders.
|Alternate Journal||Invest Ophthalmol Vis Sci|
|PubMed Central ID||PMC7571321|
|Grant List||R01 EY024091 / EY / NEI NIH HHS / United States |
R21 AG050437 / AG / NIA NIH HHS / United States
R01 EY018213 / EY / NEI NIH HHS / United States
U54 OD020351 / OD / NIH HHS / United States
R01 EY026682 / EY / NEI NIH HHS / United States
R24 EY027285 / EY / NEI NIH HHS / United States
R01 EY025225 / EY / NEI NIH HHS / United States
P30 CA013696 / CA / NCI NIH HHS / United States
R24 EY028758 / EY / NEI NIH HHS / United States
P30 EY026877 / EY / NEI NIH HHS / United States
U01 EY030580 / EY / NEI NIH HHS / United States
R01 EY024698 / EY / NEI NIH HHS / United States
P30 EY019007 / EY / NEI NIH HHS / United States