Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family
, Sadaf Saba 2, Jun Li 3,†, Lev Prasov 1,4,5 and Jason M. L. Miller 4,5,*
Round 1
Reviewer 1 Report
The authors investigated the genotype and sphingolipid intermediates profile of a family with HSAN1 and HSAN1/MacTel2 overlap patients. This is an interesting study which can shed light on pathophysiology of sporadic Mactel. I commend the authors for such a well written and well-designed study. I have just a question regarding future directions:
As you correctly mentioned in the discussion that sporadic Mactel has a temporal predilection in contrast to HSAN1/MacTel2 overlap which might be due to local anatomic factors, do you think that profiling sphingolipid intermediates in blood samples of patients with sporadic Mactel show similar results?
Author Response
Please see the attachment.
Reviewer 2 Report
The authors presented an interesting case of MacTel2 in HSAN1 patients with mutations in SPTLC1 or SPTLC2, and they provided a comprehensive analysis of the sphingolipid. The only minor comment is as below:
In Figure 4, the NIR and OCT imaging of #4 (youngest) in the left eye does not seem normal to me. It is clearly some aberrant vessels diving into the fovea. Any comment? Could it be related to HSAN1? The authors should add a description in their results and in figure legends.
Author Response
Please see the attachment.
Author Response File: 
Author Response.docx
