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Correspondence:
Sung Soo Kim, MD, PhD
Department of Ophthalmology
Institute of Vision Research
Severance Eye and ENT Hospital
Yonsei University College of Medicine
134 Shinchon-dong, Seodaemun-gu
Seoul, Korea
Tel: 82-2-2019-3440
Fax: 82-2-3463-1049
Emails: semekim@yuhs.ac;
semekim@gmail.com
Prevalence of ectopia
lentis and retinal
detachment in Marfan
syndrome
Aman Chandra,1,2 Victoria Ekwalla,1
Anne Child1 and David Charteris2
1
Department of Cardiac and Vascular
Sciences, St George’s University of
London, London, UK; 2Vitreoretinal
Department, Moorfields Eye Hospital,
City Road, London, UK
doi: 10.1111/aos.12175
Editor,
W e would like to complement
the recent article by Konrad-
sen and Zetterstrom (2013) with
results of a survey we undertook.
A questionnaire investigating history
of ectopia lentis (EL) and retinal detach-
ment (RD) was sent to 567 members of
the Marfan Trust (UK) diagnosed with
e82
MFS. One hundred and eighty-five
(32.6%) completed questionnaires were
returned (Male: 49%, Female: 51%;
p = 0.22). The mean age of this cohort
was 47 years (M = 48, F = 47).
Twenty-eight (15.1%) of respon-
dents reported having had a RD
between 1965 and 2011 [M: 17(61%),
F: 11(39%)]. The mean age of devel-
oping RD was 33 years, occurring
earlier in women (25 years) than men
(33 years; p = 0.019). Twenty-one
percent of those with RD had had
previous lens surgery. Forty-four per-
cent of those who had had RD sur-
gery were affected bilaterally, whilst
13 (46%) had recurrence of RD.
Fifty-six MFS patients (30.2%)
reported having had ectopia lentis (EL)
between 1955 and 2011. The mean age
for EL diagnosis was 32 years [range
4–64, male mean age: 32 years; female
mean age: 16 years (p = 0.549)]. Sev-
enty-five percent of those who had had
surgery had bilateral lens surgery.
The rate of RD in our cohort is
greater, whilst conversely, the rate of
EL is lower, than reported by Konrad-
sen and Zetterstrom (2013). The differ-
ences may be due to population
variation or the age of cohorts (47 ver-
sus 39 years). However, both studies
lack genetic data. It is known that
FBN1 mutations affecting cysteine resi-
dues predominate in MFS cases with
EL (Faivre et al. 2007). We wonder if
other genotype–phenotype relationships
exist which may account for differences
in ocular manifestations of MFS.
We report RD occurring later than
previous large studies (Maumenee
1981). It is of interest that women
seem to have developed RD earlier
than men and is a novel finding not
described in MFS, other syndromic
nor nonsyndromic RD. Further differ-
ences from nonsyndromic RD include
the high rate of bilateral RD and
recurrent RD. Our figure agrees with
previous reports, suggesting recurrence
to occur in 30–42% of MFS cases
(Nemet et al. 2006). It appears that
management of RD in MFS is more
complicated with lower success rates
than nonsyndromic RD.
Twenty-one percentage of patients
in our cohort who had had RD had
previously had lens surgery, and it
appears that EL surgery continues to
be a risk for developing RD.
With regard to EL, we report it to
have been bilateral in 75% of affected
patients. Kondradsen and Zotterstorm
did not comment on this, and our fig-
ure is higher than in other studies. We
believe that this is due to this ques-
tionnaire collecting historical data,
suggesting that over time, bilateral EL
is more common. Although there is no
statistical significance between the age
of diagnosis of EL and gender, the
trend of women being affected youn-
ger may need further confirmation.
Kondradsen also note that axial
length (AL) was not affected by pres-
ence of EL. We previously suggested
that AL in isolated ectopia lentis may
be influenced by causative genetic
mutations (Chandra et al. 2012). It
would be of interest to know if this
were also true with FBN1 mutations.
Finally, they also observe that myopia
was not as common as the axial
lengths would have suggested. We
believe that although axial length and
myopic correction are closely related,
they are not completely mutually
exchangeable. It may be worth consid-
ering adjusting the Ghent criteria to
reflect this.
Although there are limitations to
questionnaire studies, we believe that
our results do provide further valuable
insights. Clearer data can only be
ascertained from large prospective epi-
demiological studies. Such a national
study of RD in MFS is currently
underway through the British Oph-
thalmic Surveillance Unit (BOSU),
and the results will prove interesting.
References
Chandra A, Aragon-Martin JA, Hughes K
et al. (2012): A genotype-phenotype com-
parison of ADAMTSL4 and FBN1 in iso-
lated ectopia lentis. Invest Ophthalmol Vis
Sci 53: 4889–4896.
Faivre L, Collod-Beroud G, Loeys BL et al.
(2007): Effect of mutation type and location
on clinical outcome in 1,013 probands with
Marfan syndrome or related phenotypes
and FBN1 mutations: an international
study. Am J Hum Genet 81: 454–466.
Konradsen TR & Zetterstrom C (2013): A
descriptive study of ocular characteristics
in Marfan syndrome. Acta Ophthalmol
[Epub ahead of print].
Maumenee IH (1981): The eye in the Marfan
syndrome. Trans Am Ophthalmol Soc 79:
684–733.
Nemet AY, Assia EI, Apple DJ & Barequet
IS (2006): Current concepts of ocular mani-
festations in Marfan syndrome. Surv Oph-
thalmol 51: 561–575.

may involve both the anterior and pos-
Correspondence: terior segments of the eye. Complica-
Aman Chandra tions of bunt ocular injury may include
Vitreoretinal Department hyphema, iris–lens injury, angle reces-
Moorfields Eye Hospital
sion, secondary open angle glaucoma,
City Road
London EC1V2PD, UK Berlin’s oedema, ciliary body cleft,
Tel: + 442072533411 choroidal rupture, vitreous bleeding,
Fax: + 442072533411 retinal holes and detachment (Viestenz
Email: aman.chandra@moorfields.nhs.uk & Küchle 2004, 2005). Balloon burst is
a rare cause of blunt ocular trauma.
We have treated four cases of ocular
blunt injury secondary to balloon
Exceptional hazard in the burst. All of them were heart-shaped
balloons that exploded during infla-
inflation of heart-shaped tion, causing blunt ocular injury. To
balloons the best of our knowledge, there are no
previous reports of ocular trauma
Koby Brosh,1 Yehonadav Bekenstein,2 caused by the burst of heart-shaped
Tamar Goldman,2 Yaacov Rozenman1 balloons during inflation. In addition,
and Israel Strassman1 we propose an underlying mechanism
of the injuries, based on comparative
1
Department of Ophthalmology, Shaare experimental investigation of these bal-
Zedek Medical Center, Jerusalem, Israel; loon bursts.
2
Racah Institute of Physics, The Hebrew Case 1: A 23-year-old woman was
University of Jerusalem, Jerusalem, admitted following ocular injury to the
Israel left eye. The patient described blunt
ocular injury to her left eye following
doi: 10.1111/aos.12193
the burst of a heart-shaped balloon
while she was inflating it. Upon initial
Editor, examination, best-corrected visual acu-
ity was OD 6 ⁄ 9 OS 6 ⁄ 24. A 1-mm hyp-
B lunt trauma is a common mecha-
nism of injury harming the
unprotected eye. Blunt ocular trauma
hema was noted OS. Intraocular
pressure was OS 14 mmHg. The iris
(A)
(B)
Fig. 1. Comparison of heart-shaped balloon burst (A) and spherical balloon burst (B).
Acta Ophthalmologica 2014
was dilated without retroillumination
defects. Berlin’s oedema was noted
temporal to the macula. OCT of the
macula was normal. Bed rest and topi-
cal steroids were prescribed with daily
follow-up. The hyphema and Berlin’s
oedema resolved with visual acuity
improvement to 6 ⁄ 9, 4 days later. Nev-
ertheless, permanent mydriasis and
photophobia were documented on fur-
ther follow-up.
Case 2: A 30-year-old man was
admitted due to traumatic hyphema in
the right eye. One day prior to admis-
sion, while inflating a heart-shaped bal-
loon, a burst suddenly occurred
causing blunt ocular trauma to the
right eye. Best-corrected visual acuity
at admission was OD 6 ⁄ 12–1 OS 6 ⁄ 6.
Intraocular pressure was OD 22. Upon
ocular examination, hyphema of
1.5 mm, blood cells and traumatic
mydriasis were noted. Bed rest and top-
ical steroids were prescribed. Following
absorption of the blood cells, a retinal
hole was seen at 9 o’clock. A 90 angle
recession was noted. Intraocular pres-
sure was within normal range. Prophy-
lactic laser photocoagulation was
performed around the hole. Three
months later, visual acuity was 6 ⁄ 6 in
both eyes, pupil reaction to light was
sectorial and the retina was flat.
e83