631 e-Letters

  • Response to Monfermé et al., 2018

    To the Editor:

    We read the recent article in the journal by Monfermé and coauthors (1) on phenotypic associations of TYR R402Q compound heterozygosity with keen interest. Given our own and others previous findings (2-4) that the R402Q-S192Y haplotype seemed to have a stronger biological effect, we were surprised that a triallelic effect was not supported in the clinical discussion by Monfermé et al. When we examined these results more closely, we noted that their sample included 52 S192Y variant allele carriers out of the entire collection of 69 patients, of whom 31 (44.9%) carried the R402Q-S192Y double variant haplotype. In our own collections from the Australian general population (BNMS and BLTS, Duffy et al., in submission), only 6% of R402Q carriers also carried S192Y in cis. When we examined the European 1000 Genomes subsamples, there too only 7% of R402Q haplotypes had the 192Y rather than 192S wild type allele. So, even though Monfermé et al could not detect a statistically significant additive effect on OCA trait severity due to the S192Y polymorphism within their sample, it is clear that the S192 variant allele is markedly overrepresented compared to the general population, suggesting that it must have some relationship to albinism. This genetic association of the TYR R402Q-S192Y double variant haplotype with OCA1 is now clearly causative (2, 3), and explains some of the missing heritability that has previously been seen in OCA patients (4).


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  • Re: Comparative Effectiveness and harms of intravitreal antivascular endothelial growth factor agents for three retinal conditions: a systematic review and meta-analysis

    To the Editor,
    Intravitreal antivascular endothelial growth factor (VEGF) agents undeniably have many clinical applications and we read with great interest the recent meta-analysis published in your journal by Low et al1 comparing the effectiveness and harms of these agents in three retinal disorders.
    We would first like to thank the authors for their exhaustive review and synthesis of the evidence in this area. The conclusions they reached served to confirm what many of us had already suspected.2 Nevertheless, the article features some important methodological flaws and inadequate reporting of data that we would like to highlight to ensure that readers are in a position to interpret the findings of the meta-analysis correctly.
    In relation to reporting issues, we were surprised to see that Table 1, which is quite creative and unique in terms of systematic review tables, does not include a list of the studies analyzed for each section. The authors, for example, state that they included two clinical trials comparing aflibercept and ranibizumab, but they do not specify which ones. This detracts from the transparency of the study and makes it difficult to review the findings. We also noticed a lack of uniformity within the figures, as some of the studies are listed by author name and others by author name and year of publication. In addition, Figure 3 shows data from the 2011 study by Biswas P, Sengupta S, Choudhary R, et al for the 18-24–month but not the 12...

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  • Choroidal Thickness in Macular Telangiectasia Type 2

    We read with great interest the article titled “Choroidal thickness and vascular density in macular telangiectasia type 2 using en face swept-source optical coherence tomography” by Wang et al.[1] This is an interesting study in which the authors performed multimodal imaging for the diagnosis of macular telangiectasia (MacTel) type 2 and reported similar choroidal thickness (CT) between MacTel type 2 and control eyes using swept-source optical coherence tomography (SS-OCT).[1]
    There are a few concerns that we would like to highlight. Although the authors control for confounders like age and spherical equivalent, axial length is another important confounder that has not been evaluated in this prospectively conducted study. The subfoveal CT has been reported to decrease by up to 58µm per one mm increase in the axial length after adjusting for age and sex.[2] Ignoring the axial length in choroidal thickness analysis may have untoward consequences.
    Although the number of cases was small (n=39 eyes), the stagewise distribution of CT may be of help. A recent study by Kumar et al. using SS-OCT reported different subfoveal CT in non-proliferative and proliferative stages of the disease, although the results were not statistically significant.[3] If a varied distribution is observed between different stages, this may support the role of the choroid in the pathophysiology of this disease.
    Inter-ocular asymmetry does exist in CT[4] as well as in the pr...

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  • Author response to “Collaterals or telangiectasias?”

    Dear Editor,

    We appreciate the valuable comments from Dr. Sato regarding our recently published article.1 Dr. Sato’s comments raise important points about definition of collateral vessels in eyes with branch retinal vein occlusion (BRVO).
    As previously reported,2 collateral vessels develop from the pre-existing retinal capillary network to drain a blood flow from an obstructed vein into an adjacent area in eyes with BRVO. Therefore, in the current study, we defined collateral vessels as dilated and tortuous capillaries occurring in pre-existing capillary beds and linking the obstructed vessel with the nearest patent vessel. Thus, the adjacent vessels also seemed to be dilated and tortuous, which had been similarly observed in our previous study.3 We speculate that the pressure gradient between an obstructed vein and neighbouring unobstructed vessels causes collateral vessels formation. The collaterals detection rate in the current study was higher than in the previous study.3 This is because wider optical coherence tomography angiography (OCTA) images, the size of which was 6 ✕ 6 mm in area, were used in the current study.
    Regarding the other comment about the location of collateral vessels, Freund et al4 reported that collateral vessels were observed in only deep retinal capillary layer. However, we confirmed that the collateral vessels were present in both the superficial and the deep capillary layers on B scan images of OCTA. Additionally, fluoresc...

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  • reply to Previous Reports of Tyr437His mutation

    Dear Editors,
    Thanks for your email and comments for John H Fingert et al.
    In our work, we aim to characterize the genotype(s), phenotype(s) and age-related penetrance in a Chinese family with primary open-angle glaucoma (POAG). We recruited a four-generation Chinese family with 22 participants and identified a novel heterozygous MYOC gene mutation (exon3 c.1309T>C p.Y437H) only among seven POAG patients and one ocular hypertension (OHT) patient. Further, we summarized the exact phenotype characterization of MYOC Y437H mutation and calculated the age-related penetrance of this family. Hopefully, we can do a favor in establishing genotype–phenotype correlations, which play a significant role in predicting the range of phenotypic variation of a specific mutation, in managing the disease better and in genetic counselling.
    To the best of our knowledge, this is the first report of Y437H mutation in Chinese.Thus, we titled our work as “A novel MYOC gene mutation in a Chinese family with primary open-angle glaucoma”, which we really mean is a novel mutation only in Chinese population. We are very sorry about the misunderstanding the inappropriate title of our article may cause. In “Molecular analysis” section, we have affirmed that the Y437H mutation has been reported and referred previous article titled” Identification of a gene that causes primary open angle glaucoma” and so on.
    To avoid above misunderstanding ever happening, if it is possible we’d li...

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  • Reply

    We thank Dr. Sarnicola and family for their interest in our work and at the same time we apologize for not mentioning their preliminary results published in 2010; in this regard, some issues need be clarified.
    We used an acronym to shorten the text and facilitate the readers of our article by eliminating this way long descriptive wording of the procedure. This did not imply by any means an attempt at modifying the terminology of surgical techniques, which is usually a task of the ophthalmological community. In fact, a particular acronym becomes a standard only when it is cited as such by numerous papers in the literature. This is not seeming the case, for the acronym “AVB”, that has never been used after its initial introduction by Sarnicola et al., thus failing to achieve the purpose aimed at.
    In addition, we had a reason to introduce a new acronym because of a substantial difference in the surgical technique: in fact, instead of creating a new corneal tunnel into the emphysematous tissue, we inject ophthalmic viscoelastic device (OVD) in the same track created for pneumatic dissection, thus increasing surgical reproducibility and safety.
    The lack of previous data we indicated (“…little data are available on the success rate…type of cleavage obtained, visual results and complications of this approach”) was simply related to the new concept of performing the injection of the OVD in the same corneal path where the air had failed.
    In our series visual...

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  • Previous Reports of Tyr437His mutation

    Dear Editors,

    The British Journal of Ophthalmology article, “Novel MYOC gene mutation in a Chinese family with primary open angle glaucoma” by Lei and coworkers describes a Tyr437His mutation in the myocilin gene. Contrary to descriptions in the title, abstract, and text of this article, the Tyr437His mutation is not novel. We and others have previously reported the same Tyr437His mutation in several publications dating back to 1997 [1-5].

    1 Stone EM, Fingert JH, Alward WLM, et al. Identification of a Gene That Causes Primary Open Angle Glaucoma. Science 1997;275:668–70.
    2 Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998;338:1022–7.
    3 Wiggs JL, Allingham RR, Vollrath D, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998;63:1549–52.
    4 Fingert JH, Héon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999;8:899–905.
    5 Fingert JH, Stone EM, Sheffield VC, et al. Myocilin glaucoma. Survey of Ophthalmology 2002;47:547–61.

  • Inclusion criteria and non-cycloplegyc examinations in study of refractive errors in Colombia

    We thank Dr. Tobon for his comments regarding our recently published article on refractive errors frequency in Colombia.1
    Initially he referred to the exclusion of the participants with less than 20/40 of distance corrected vision. The explanation of the application of this criterium was that, since as it has been shown, reproducibility of manifest refraction is less in patients with bad distance corrected visual acuity, and in this study we needed to have a very reliable manifest refraction examination.2
    However, we believe that Dr. Tobon highlights a very interesting point, which is worth analyzing in more detail. Ours and other studies that have analyzed the prevalence of refractive errors in a population have excluded eyes with other ocular conditions, including amblyopia. For example, in the study conducted in Mexico by Gomez-Salazar et al, which included a very large sample (more than 670,000 patients), they excluded patients with amblyopia.3 This made it impossible to analyze the frequency of amblyopia or anisometropia.
    In our study we excluded those patients with less than 20/40 of distance corrected visual acuity in any eye. Unfortunately, we did not keep the information on those patients excluded, and therefore we cannot determine the exact number or diagnosis of those cases. For future studies we will record such information.
    With regard to the second query of Dr. Tobon, we decided not to use cyclopegic refraction in this study, performed...

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  • Concerns about the inclusion criteria

    Best regards,

    I have read with great interest the article of Galvis et al about Prevalence of refractive errors in Colombia: MIOPUR study. It is a great effort and it might be the first study of its type in our country. In the discussion section, the inclusion criteria needs to be better explained.

    1: Why did they exclude the participants with less than 20/40 corrected vision?
    2: Is the vision exclusion criteria based on any eye or the better eye?
    3: Why didn’t they use cyclopegic medication for the refraction exam?

    These concerns affect the results because all of the amblyopic patients are excluded from the study and the hyperopic patients and those with an astigmatism that induce amblyopia are underreported, as seen in the table that shows a very low incidence in those refractive errors.

  • Tuning Of The Literature Related To The Airviscobubble (AVB) DALK Technique

    Tuning Of The Literature Related To The Airviscobubble (AVB) DALK Technique
    Corresponding author:
    Vincenzo Sarnicola
    Address: Clinica degli Occhi Sarnicola,
    Via Mazzini no. 62, Grosseto 58100, Italy.
    Fax: +39-0564-413023
    Tel: +39-3201158500
    e-mail address: v.sarnicola@hotmail.it or sarnicolavincenzo@gmail.com

    Vincenzo Sarnicola, MD1

    Enrica Sarnicola, MD1-3

    Caterina Sarnicola, MD 4

    1 Clinica degli Occhi Sarnicola, Grosseto, Italy
    2 Ospedale Oftalmico di Torino, Struttura Complessa Oculistica 2, Turin, Italy
    3 Ospedale San Giovanni Bosco, Struttura Complessa Oculistica 2, Turin, Italy
    4 Department of Biomedical and Specialty Surgical Sciences, University of Ferrara, Ferrara, Italy;

    Competing interests: None.

    Keywords: DALK; airviscobubble; AVB; dDALK; descemetic DALK.

    Word Count: 303

    To the Editor:

    We read with interest the article published by Scorcia et al.[1] It is encouraging to see others, such as Scorcia et al, embracing the use of ophthalmic viscoelastic device (OVD) injection as a second bubble a...

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