Macular lesion resembling adult‐onset vitelliform macular dystrophy in Kearns–Sayre syndrome with multiple mtDNA deletions

Abstract

We present the case of a 48-year-old woman with a clinically and histopathologically confirmed Kearns-Sayre syndrome who developed a maculopathy resembling an adult-onset vitelliform macular dystrophy in her right eye. DNA analysis identified the presence of multiple deletions in the mtDNA of the muscle sample, with the common deletion of 4977 bp the most abundant. To the best of our knowledge, there have been no previous reports of such macular lesion occurring in association with Kearns-Sayre syndrome.

Macular findings in Spectral Domain Optical Coherence Tomography and OCT Angiography in a patient with Kearns–Sayre syndrome

“…In order of affection, RPE is initially affected, followed by changes in photoreceptors and choriocapillaris [4, 7, 8, 11–13]. The alterations of RPE and photoreceptors are generally atypical and diffuse, described as “Salt and Pepper” appearance in the most of the cases, but this changes can be highly variable [14, 15]. Among the different presentations described: areas of hyperpigmentation and hypertrophy of the RPE, chorioretinal degeneration and some fluffy white patchy lesions, even some authors like Ascaso et al [15], reported a macular lesion resembling adult-onset vitelliform macular dystrophy and in other cases it could present with subretinal fluid [16].…”

“…The alterations of RPE and photoreceptors are generally atypical and diffuse, described as “Salt and Pepper” appearance in the most of the cases, but this changes can be highly variable [14, 15]. Among the different presentations described: areas of hyperpigmentation and hypertrophy of the RPE, chorioretinal degeneration and some fluffy white patchy lesions, even some authors like Ascaso et al [15], reported a macular lesion resembling adult-onset vitelliform macular dystrophy and in other cases it could present with subretinal fluid [16]. All of these RPE changes are evidenced in histologic studies [4, 7, 8, 11–13], and these histopathological features are consistent with the findings in our patient evidenced in the HD SD OCT, so it is possible that with new OCT technology anatomical changes of outer retina layers in KSS can be seen consistently, specially with the use of enhanced depth imaging (EDI OCT) and OCT-A.…”

Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis

“…The assessment of mtDNA deletions was performed in muscle samples by long-range PCR using Phusion High-Fidelity PCR Master Mix with GC Buffer (F-532L, ThermoFisher Scientific) and the following primers: forward 5 -TTAGCAAGGGAACTACTCCCA-3 and reverse 5 -CGGATACAGTTCACTTTAGCTACCCCCAAGTG-3 . The methodology of this procedure was performed as previously described [26][27][28]. The PCR products were electrophoresed in a 0.8 % agarose gel with ethidium bromide to detect different sizes in the mitochondrial genome (see Supplementary Figure S1).…”

Hallazgos en la tomografía de coherencia óptica macular y de electrofisiología en un paciente con síndrome de Kearns-Sayre y anemia de Fanconi

“…La atrofia de la retina externa y la degeneración de los fotorreceptores sugieren que el daño primario sea en el epitelio pigmentario de la retina (20). Sin embargo, se han registrado lesiones maculares similares a las encontradas en la distrofia macular viteliforme en los pacientes con este síndrome (21).…”