malities were found. Her fundus appearance and renal
abnormality led us to examine her parents. Both had
normal fundus and no renal abnormalities.
After obtaining informed consent, molecular genetic
analysis of the PAX2 gene by direct sequencing of all
coding regions revealed a heterozygous insertion of a G at
position 619 (Figure 2). This substitution was not detected
in the parents or 42 healthy volunteers, suggesting that
this was a de novo mutation.
The atypical coloboma in our patient is apparently
different from a typical optic nerve head “coloboma”
that results from defective closure of the embryonic
fissure in the inferior part of the optic disk. This is
consistent with a recent report that PAX2 is expressed
in all cells of the optic stalk of developing mice.
2
We
thus hypothesize that an abnormal development of the
optic stalk led to the abnormal optic nerve head seen in
congenital optic nerve anomalies caused by mutations
in PAX2. Therefore, this is a dysplastic rather than a
typical colobomatous disk, and “papillorenal syndrome”
may be a more appropriate designation for the PAX2-
associated optic disk anomaly.
3,4
Our findings suggest
that we should consider renal abnormalities whenever
an atypical round coloboma is observed, even if the
patient has normal blood chemistry and urinalysis.
Our study combined with other studies confirmed that
exon 2 of PAX2, especially a sequence of seven Gs in
the exon, may be particularly prone to mutations.
5
This
would suggest that a common mutational mechanism
may be involved, such as slippage during DNA replica-
tion, irrespective of the race. The presence of a muta-
tional hot spot would also suggest the diagnostic value
of PAX2 gene. Molecular analysis of PAX2, especially
exon 2 in combination with renal ultrasonography, may
help in an earlier diagnosis at an early stage of the
disease.
REFERENCES
1. Sanyanusin P, Schimmenti LA, McNoe LA, et al. Mutation of
the PAX2 gene in a family with optic nerve colobomas, renal
anomalies and vesicoureteral reflux. Nat Genet 1995;9:358 –364.
2. Dakubo GD, Wang YP, Mazerolle C, Campsall K, McMahon
AP, Wallace VA. Retinal ganglion cell-derived sonic hedge-
hog signaling is required for optic disc and stalk
neuroepithelial cell development. Development 2003;130:
2967–2980.
3. Parsa CF, Goldberg MF, Hunter DG. Papillorenal (“renal
coloboma”) syndrome. Am J Ophthalmol 2002;134:300 –301;
author reply 301.
4. Parsa CF, Goldberg MF, Hunter DG. No colobomas in “renal
coloboma” syndrome. Ophthalmology 2003;110:251–252; au-
thor reply 251.
5. The Human PAX2 Allelic Variant Database. Available at
http://pax2.hgu.mrc.ac.uk. Accessed October 1, 2004.
Comparison of Two Techniques of
Marking the Horizontal Axis During
Excimer Laser Keratorefractive
Surgery for Myopic Astigmatism
Jenna M. Burka, MD, Kraig S. Bower, MD,
David L. Cute, DO, Richard D. Stutzman, MD,
Prem S. Subramanian, MD, PhD, and
Jeff C. Rabin, OD, PhD
PURPOSE: To compare two methods of limbal marking used
during laser refractive surgery for myopic astigmatism.
DESIGN: Retrospective chart review.
METHODS: Forty-two eyes of 42 patients who underwent
photorefractive keratectomy (PRK) or laser-assisted in-
situ keratomileusis (LASIK) for myopic astigmatism
were marked preoperatively to identify the horizontal
axis. In 18 eyes, marks were placed at the slit lamp (SL)
with the slit beam set at 180 degrees as a reference. In 24
eyes, marks were placed in the laser room (LR) immedi-
ately before reclining under the laser. All treatments
were performed with the Alcon LADARVision excimer
laser system. Vector analysis of postoperative cylinder
and reduction in cylinder and uncorrected and best-
corrected visual acuity were evaluated for both groups.
RESULTS: The mean postoperative magnitude of error was
– 0.19 0.44 diopters for the LR group and – 0.09
0.42 diopters for the SL group (P .439, NS). Both
groups had a mean angle of error indicating an overall
counterclockwise rotation of axis with an angle of error
of 6.3 8.7 degrees for the LR group and 8.0 10.2
degrees for the SL group (P .562, NS).
CONCLUSIONS: We found no significant difference in
outcomes with an overall trend toward undercorrection
of cylinder in both groups, leaving room for improvement
after refractive surgery for myopic astigmatism (Am J
Ophthalmol 2005;139:735-737. © 2005 by Elsevier
Inc. All rights reserved.)
A
XIAL MISALIGNMENT MAY RESULT IN RESIDUAL ASTIG-
matism after excimer laser keratorefractive surgery.
1–3
Misalignment by 15 degrees reduces efficacy, as measured
by the flattening index, by 14%. A 50% reduction occurs
with a misalignment of 30 degrees. The magnitude of
postoperative astigmatism, however, is increased by 14%
with an angle of error of only 4 degrees and by 50% with
a 15-degree angle of error.
4
Limbal marking has been
shown to improve surgical outcomes for 1.25 diopters of
Accepted for publication Oct 4, 2004.
From the Ophthalmology Service, Walter Reed Army Medical Center
(J.M.B., K.S.B., D.L.C., R.D.S., P.S.S.), Washington, DC; School of
Optometry, Pacific University, Forest Grove, Oregon (J.R.).
Inquiries to Kraig S. Bower, MD, Ophthalmology Service, Walter Reed
Army Medical Center, Room 2F-205, 6900 Georgia Avenue NW,
Washington, DC 20307-5001; fax: (202) 782-4653; e-mail kraig.bower@
na.amedd.army.mil
BRIEF REPORTS VOL. 139,NO. 4 735