LETTER TO THE EDITOR
Letter to the Editor Regarding Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis): Recent Advances and Future Challenges To the Editor: read with interest the comprehensive article by Maslin et al1 based on a PubMed literature search. I applaud the effort and have found it helpful to have the information in 1 publication. While I look back over 26 years of service to the community, I am proud of all those patients who participated in the studies. I am also proud of all those committed health care providers and researchers who improve the quality of life and care for the courageous individuals who live with a visible difference. Our members have become empowered advocates for quality clinical care and strive to not become stigmatized by the diagnosis. I noted the photo of a child in Figure 1 with the eyes blocked out much to my disdain. The use of dehumanizing photos continues to promote the idea that patients are a syndrome first and human being second. Yes, due to the necessity to highlight a biological feature or for legal reasons, some institutions will not allow any identifiable information or photos to be used. Whenever possible and with patient consent for use, we strongly encourage authors of future Sturge-Weber syndrome abstracts and articles to feature the patient. There has been a resurgence of interest in Sturge-Weber syndrome due to the GNAQ gene mutation discovery in 2013. Families are eager to participate in our online registry (https://swsregistry.patientcrossroads.org/), which contains natural history data on patients and family members. Scientists are applying for research grants to further investigate the gene mutation pathways and port wine birthmarks. Institutions are applying to become a sanctioned SturgeWeber Center of Excellence, and pharmaceutical companies are partnering with us to facilitate clinical trials. At the time of publication, controversies still abound but much less than in the early years before the first NIH SturgeWeber Consensus Workshop in 1999. I look forward to spirited discussions on the
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emerging devices, therapies, and biotech innovation that will enhance the patient’s life and to the follow-up article from these very thorough authors. Karen L. Ball, BS Sturge-Weber Foundation Mt. Freedom, NJ The author has no funding or conflicts of interest to declare.
REFERENCE 1. Maslin JS, Dorairaj SK, Ritch R. SturgeWeber syndrome (encephalotrigeminal angiomatosis): recent advances and future challenges. Asia Pac J Ophthalmol. 2014;6:361Y367.
Authors’ Reply
our article,1 notably the blockage of the eyes of the child with SWS. We did not wish to suggest that patients with SWS be viewed as a syndrome first and a person second. We hope that our paper conveyed the importance of an interdisciplinary approach in taking care of the entire patient with SWS, with the patient coming first and foremost. The photo of this particular patient was obtained with permission from another journal,2 and per the rules of that journal, the eyes were blocked out to respect the patient’s privacy. We do appreciate and agree with her suggestion to use photos of the entire face whenever possible, and we will make the best effort to do so in future SWS publications so long as patient approval is obtained, patient privacy is respected, and the rules of the publishing journal are adhered to. We strongly agree with Ms. Ball that the patient and the human nature of this condition come first. Jessica Maslin, MD
To the Editor:
Ophthalmology and Visual Science Yale University School of Medicine New Haven, CT
W
e thank Ms. Ball very much for her thoughtful and insightful letter to the editor regarding our recent review on Sturge-Weber syndrome (SWS), and we truly commend her and the Sturge-Weber Foundation for all their work in supporting patients with this difficult disease. We recognize that it has been their tireless efforts that have made such a difference in the lives of countless patients with this condition, and we appreciate this very much. We also thank Ms. Ball for sharing with us her concerns about Figure 1 in
Syril Dorairaj, MD Department of Ophthalmology Mayo Clinic Jacksonville, FL
Robert Ritch, MD Department of Ophthalmology New York Eye and Ear Infirmary of Mount Sinai School of Medicine New York, NY Dr. Ritch is Associate Editor-in-Chief of AsiaPacific Journal of Ophthalmology and, as such, did not review this work for consideration to publish. He is a board member for Sensimed and iSonis Medical, a consultant for Aeon Astron, has received travel expenses and speaker fees from Allergan, Merck, Pfizer, Taejoon Pharmaceutical, and the Ministry of Health of Kuwait, receives royalties from Ocular Instruments, and owns stock with Aeon Astron and Diopsys, none of which was used to support any part of this work. For the remaining authors, no funding or conflicts of interest were declared.
REFERENCES 1. Maslin JS, Dorairaj SK, Ritch R. Sturge-Weber syndrome (encephalotrigeminal angiomatosis): recent advances and future challenges. Asia Pac J Ophthalmol. 2014;6:361Y367.
FIGURE 1. Asia-Pacific Journal of Ophthalmology
2. Waelchli R, Aylett SE, Robinson K, et al. New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol. 2014;171:861Y867.
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Volume 4, Number 4, July/August 2015
Copyright © 2015 Asia Pacific Academy of Ophthalmology. Unauthorized reproduction of this article is prohibited.
Letter to the Editor Regarding Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis): Recent Advances and Future Challenges To the Editor: read with interest the comprehensive article by Maslin et al1 based on a PubMed literature search. I applaud the effort and have found it helpful to have the information in 1 publication. While I look back over 26 years of service to the community, I am proud of all those patients who participated in the studies. I am also proud of all those committed health care providers and researchers who improve the quality of life and care for the courageous individuals who live with a visible difference. Our members have become empowered advocates for quality clinical care and strive to not become stigmatized by the diagnosis. I noted the photo of a child in Figure 1 with the eyes blocked out much to my disdain. The use of dehumanizing photos continues to promote the idea that patients are a syndrome first and human being second. Yes, due to the necessity to highlight a biological feature or for legal reasons, some institutions will not allow any identifiable information or photos to be used. Whenever possible and with patient consent for use, we strongly encourage authors of future Sturge-Weber syndrome abstracts and articles to feature the patient. There has been a resurgence of interest in Sturge-Weber syndrome due to the GNAQ gene mutation discovery in 2013. Families are eager to participate in our online registry (https://swsregistry.patientcrossroads.org/), which contains natural history data on patients and family members. Scientists are applying for research grants to further investigate the gene mutation pathways and port wine birthmarks. Institutions are applying to become a sanctioned SturgeWeber Center of Excellence, and pharmaceutical companies are partnering with us to facilitate clinical trials. At the time of publication, controversies still abound but much less than in the early years before the first NIH SturgeWeber Consensus Workshop in 1999. I look forward to spirited discussions on the
I
242
emerging devices, therapies, and biotech innovation that will enhance the patient’s life and to the follow-up article from these very thorough authors. Karen L. Ball, BS Sturge-Weber Foundation Mt. Freedom, NJ The author has no funding or conflicts of interest to declare.
REFERENCE 1. Maslin JS, Dorairaj SK, Ritch R. SturgeWeber syndrome (encephalotrigeminal angiomatosis): recent advances and future challenges. Asia Pac J Ophthalmol. 2014;6:361Y367.
Authors’ Reply
our article,1 notably the blockage of the eyes of the child with SWS. We did not wish to suggest that patients with SWS be viewed as a syndrome first and a person second. We hope that our paper conveyed the importance of an interdisciplinary approach in taking care of the entire patient with SWS, with the patient coming first and foremost. The photo of this particular patient was obtained with permission from another journal,2 and per the rules of that journal, the eyes were blocked out to respect the patient’s privacy. We do appreciate and agree with her suggestion to use photos of the entire face whenever possible, and we will make the best effort to do so in future SWS publications so long as patient approval is obtained, patient privacy is respected, and the rules of the publishing journal are adhered to. We strongly agree with Ms. Ball that the patient and the human nature of this condition come first. Jessica Maslin, MD
To the Editor:
Ophthalmology and Visual Science Yale University School of Medicine New Haven, CT
W
e thank Ms. Ball very much for her thoughtful and insightful letter to the editor regarding our recent review on Sturge-Weber syndrome (SWS), and we truly commend her and the Sturge-Weber Foundation for all their work in supporting patients with this difficult disease. We recognize that it has been their tireless efforts that have made such a difference in the lives of countless patients with this condition, and we appreciate this very much. We also thank Ms. Ball for sharing with us her concerns about Figure 1 in
Syril Dorairaj, MD Department of Ophthalmology Mayo Clinic Jacksonville, FL
Robert Ritch, MD Department of Ophthalmology New York Eye and Ear Infirmary of Mount Sinai School of Medicine New York, NY Dr. Ritch is Associate Editor-in-Chief of AsiaPacific Journal of Ophthalmology and, as such, did not review this work for consideration to publish. He is a board member for Sensimed and iSonis Medical, a consultant for Aeon Astron, has received travel expenses and speaker fees from Allergan, Merck, Pfizer, Taejoon Pharmaceutical, and the Ministry of Health of Kuwait, receives royalties from Ocular Instruments, and owns stock with Aeon Astron and Diopsys, none of which was used to support any part of this work. For the remaining authors, no funding or conflicts of interest were declared.
REFERENCES 1. Maslin JS, Dorairaj SK, Ritch R. Sturge-Weber syndrome (encephalotrigeminal angiomatosis): recent advances and future challenges. Asia Pac J Ophthalmol. 2014;6:361Y367.
FIGURE 1. Asia-Pacific Journal of Ophthalmology
2. Waelchli R, Aylett SE, Robinson K, et al. New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol. 2014;171:861Y867.
&
Volume 4, Number 4, July/August 2015
Copyright © 2015 Asia Pacific Academy of Ophthalmology. Unauthorized reproduction of this article is prohibited.
