Edward Sucksmith, Assistant Editor
BioMed Central (BMC) Ophthalmology
Floor 6, 236 Gray's Inn Road, London, WC1X 8HB
United Kingdom
Dear Mr. Sucksmith,
Enclosed is a revised manuscript entitled “Rare ocular features in a case of Kabuki
syndrome (Niikawa-Kuroki syndrome)” that we are resubmitting to BMC
Ophthalmology (Section of Case Reports). Thank you for the thorough reviews from
the reviewers. We have worked on the wordings accordingly and raised the readability.
We have also provided a more detailed review on the association between Kabuki
syndrome and CHARGE syndrome.
We believe that the information from this case report is helpful for clinicians, and
we are hopeful that it will be considered for publication as a case report in BMC
Ophthalmology.
Sincerely,
Wei-Chi Wu, MD, PhD
Department of Ophthalmology, Chang Gung Memorial Hospital.
1
No. 5, Fu-Hsing Street, Kweishan, Taoyuan, 333, Taiwan
TEL: 886-3-3281200, ext. 8666
FAX: 886-3-3287798
E-mail: weichi666@gmail.com
New editorial comments.Second review:
The authors have addressed most of the comments by the reviewers. In
particular, one reviewer had recommended including increased reference to and
overlap with CHARGE syndrome. While this was done to some degree, a more
thorough comparison would be helpful along with updated references. (see
below).
The authors did not address most of the recommendations from the associate
editor and there continue to be numerous grammatical and wording errors
throughout the manuscript.
Below were not changed from the previous review:
Page 4. Case History. Please change “consciousness change” which is awkward to
“a change in consciousness”.
Response: We have changed the wordings as suggested by the reviewer. (Please see
changes on Page 4, Paragraph 2, lines 1-2).
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Page 5. There continues to be an inconsistent use of the pronoun “his” and the
article “the”. For example, in the first paragraph on this page – “light
perception in his right eye and counting finger(s) in the left eye.” Please check for
consistency throughout the manuscript. Also add an “s” to the word finger
above.
Response: We have changed the wordings as suggested by the reviewer. (Please see
changes on Page 5, Paragraph 2, lines 2-10).
Page 5.same paragraph- The sentence beginning “An examination under
anaesthesia.” is very long and difficult to read. Consider modifying to two or
more sentences for increase readability.
Response: The context is changed to “An examination under anaesthesia revealed a
normal cornea in the left eye, but a microcornea in the right eye. The anterior chamber
and lens were normal in both eyes. Iris and optic disc coloboma in the right eye was
discovered (Figure 1B). In addition, retina and choroid coloboma in both eyes and an
elevated optic disc without central cupping in the left eye were found (Figure 1C).”
(Page 5, Paragraph 2, line 8-12).
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Page 5.Bottom of page.paragraph beginning “There was neither history” The
term “mental disabilities” is used here, but elsewhere in the manuscript the term
“intellectual disabilities” is also used for this child. Please follow the reviewer’s
suggestion with regard to terminology and check for consistency throughout the
text.
Response: We have changed the wordings as the reviewer suggested. (Please see
changes on Page 6, Paragraph 1, lines 1-4).
References: The authors have updated their reference list by adding 2
references, the most recent from 2012, yet a quick review of the literature
indicates there are over 35 articles on Kabuki syndrome from 2013 and 2014
alone. A more comprehensive review and citation of the literature should be
completed prior to consideration for publication.
Response: A more comprehensive review was performed, and the reference list was
updated. (Please see changes on Page 6, Paragraph 3, to Page 7, Paragraph 1).
New comments and very strongly suggested changes to improve readability:
(changes are underlined in most places)
Please explain why the term “CHARGE association” rather than “CHARGE
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syndrome” is used. The more widely used term in a review of the literature and
online appears to be “syndrome”. In addition, there are additional references
linking the two which should be reviewed, commented on in the article and cited
in the references.
Response: The CHARGE association was first described in 1979 by Hall et al. in 17
children with multiple congenital anomalies who were ascertained by choanal atresia
[1]. Pagon et al. first coined the acronym CHARGE association in 1981 [2]
(Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital
hypoplasia, Ear anomalies/deafness). The original diagnostic criteria required the
presence of four of six of the CHARGE characteristics. An expert group defined the
major and minor criteria of CHARGE syndrome in 1998 [3]. Individuals with all four
major characteristics (the classical 4C's: Choanal atresia, Coloboma, Characteristic
ears and Cranial nerve anomalies) or three major and three minor characteristics are
highly likely to have CHARGE syndrome [3]. We have changed the wordings to
“CHARGE syndrome” and added some additional references. (Please see changes
throughout the text).
References:
[1] Hall BD: Choanal atresia and associated multiple anomalies.
Pediat 1979, 95:395-398.
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[2] Pagon RA, Graham JM Jr, Zonana J, Young SL: Coloboma, congenital heart
disease, and choanal atresia with multiple anomalies: CHARGE association.
Pediat 1981, 99:223-227.
[3] Blake KD, Davenport SLH, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin
AE, Graham JM Jr: CHARGE association: an update and review for the
primary pediatrician.lin Pediatr (Phila) 1998, 37:159-173.
Abstract:
Line 3 “patient of Kabuki Syndrome”. please consider changing wording
to“patient with Kabuki syndrome who has a dysplastic and elevated.”
Response: The wording has been changed as the reviewer suggested. (Please see
changes on Page 2, Paragraph 2, Line 2).
Conclusion:
Change “Our patient presented a dysplastic elevated disc” to “Our patient
presented with a dysplastic elevated disc”
Response: The wording has been changed as the reviewer suggested. “The
presentations of a dysplastic disc and colobomatous microphthalmia are rarely
reported in patients with Kabuki syndrome, but these ocular abnormalities may affect
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vision.” (Please see changes on Page 2, Paragraph 3, Line 1-2).
Background:
First sentence: it is redundant and awkward to use the word syndrome twice in
the opening sentence.
Suggest changing to “multisystem malformation condition (or disorder)”
Third line: consider removing the word “postnatal” this seems to be intuitive.
7th line: aren’t ophthalmological abnormalities and ocular findings the same
thing? These phrases are therefore redundant. The words “been reported” are
also redundant and should be corrected.
3rd to last line: “We report on a patient with Kabuki syndrome”. “Rare
presentations of a microcornea”
Response: The wording has been changed as the reviewer suggested. (Please see
changes on Page 4, Paragraph 1).
Page 4
Case History:First sentence “due to a change in consciousness following a seizure
attack. Physical examination revealed”
Page 5 - 2nd line. “stated that he had longstanding poor vision.”
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Page 5 - 2nd paragraph. “in addition, microphthalmia in the right eye was noted.”
Visual acuity was “no light perception” in his right eye and counting fingers in
his left eye.
“retinal and choroidal colobomas in both eyes”
“without central cupping his left eye”
“retrobulbar bulging cystic mass in both eyes, likely related to the”
Response: The wording has been changed as the reviewer suggested. (Please see
changes on Pages 4-5).
Discussion:
4th line from the bottom of Page 6:Reported in Kabuki syndrome (3,5,9). The
presentation of a dysplastic disc, however, is rare.
“has not been previously reported.”
Last line on Page 6:“There are several ophthalmic phenotypic overlaps between”
Page 7. 5th line:“Distinguishing between CHARGE”. can be challenging when he
facial presentations?
....is an MLL2 gene mutation, in contrast to the CHD7 gene mutation found in
CHARGE syndrome.?
“have an MLL2 gene mutation”
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Response: The wording has been changed as the reviewer suggested. (Please see
changes on Pages 6-7).
Figure Legend. last line: remove the double negative from the sentence beginning:
“No orbital fracture or intraorbital”
Response: The wording has been changed as the reviewer suggested. (Please see
changes on Page 13, lines 10-11).
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