Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
  • Users Online: 4189
  • Home
  • Print this page
  • Email this page

   Table of Contents      
LETTER TO THE EDITOR
Year : 2020  |  Volume : 68  |  Issue : 7  |  Page : 1509-1510

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


Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Wien, Austria

Date of Web Publication25-Jun-2020

Correspondence Address:
Prof. Josef Finsterer
Postfach 20, 1180 Vienna, Austria
Austria
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_2358_19

Rights and Permissions

How to cite this article:
Finsterer J. Comments on: Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram. Indian J Ophthalmol 2020;68:1509-10

How to cite this URL:
Finsterer J. Comments on: Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram. Indian J Ophthalmol [serial online] 2020 [cited 2020 Jul 10];68:1509-10. Available from: http://www.ijo.in/text.asp?2020/68/7/1509/287555



Dear Editor:

With interest we read the article by Tripathy et al. 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).[1] We witnessed a number of shortcomings in the study which have been stated as follows:

Firstly, no heteroplasmy rates in any affected or non-affected tissue were provided. We should know heteroplasmy rates since they can be helpful to predict the disease trajectory and are required for genetic counselling.[2]

Secondly, the mother of the index patient was not genetically investigated. Since 75% of the mtDNA mutations are maternally inherited,[3] it is conceivable that the culprit variant was transmitted via the maternal line. Phenotypic expression in the mother at variance from that in her daughter is not unusual since the phenotypic expression of an mtDNA variant can be highly heterogeneous between family members.[4] We should be aware if the mother of the index patient also manifested with hypoacusis and diabetes in addition to the cataract.

Thirdly, neither the index patient nor her mother were prospectively investigated for multisystem disease, frequently found in m.3243A>G carriers.

In addition, we should be informed about the cause of ischemic heart disease,[1] that is, whether it was due to coronary heart disease from diabetes or a primary manifestation of the underlying genetic defect, as has been recently demonstrated.[5]

Overall, this interesting case report has a number of shortcomings which need to be addressed before the conclusions drawn can be adopted.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Tripathy K, Sarma B, Mazumdar S. Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram. Indian J Ophthalmol 2020;68:250-3.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
McCann BJ, Tuppen HA, Küsters B, Lammens M, Smeitink JA, Taylor RW, et al. A novel mitochondrial DNA m. 7507A>G mutation is only pathogenic at high levels of heteroplasmy. Neuromuscul Disord 2015;25:262-7.  Back to cited text no. 2
    
3.
Poulton J, Finsterer J, Yu-Wai-Man P. Genetic counselling for maternally inherited mitochondrial disorders. Mol Diagn Ther 2017;21:419-29.  Back to cited text no. 3
    
4.
Liu G, Shen X, Sun Y, Lv Q, Li Y, Du A. Heteroplasmy and phenotype spectrum of the mitochondrial tRNA (Leu (UUR)) gene m. 3243A>G mutation in seven Han Chinese families. J Neurol Sci 2019;408:116562. doi: 10.1016/j.jns. 2019.116562.  Back to cited text no. 4
    
5.
Zhang Z, Liu M, He J, Zhang X, Chen Y, Li H. Maternally inherited coronary heart disease is associated with a novel mitochondrial tRNA mutation. BMC Cardiovasc Disord 2019;19:293.  Back to cited text no. 5
    




 

Top
 
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
References

 Article Access Statistics
    Viewed65    
    Printed0    
    Emailed0    
    PDF Downloaded20    
    Comments [Add]    

Recommend this journal