Letters to the Editor
Atypical Blepharophimosis Syndrome
Dear Editor:
We write to report atypical blepharophimosis syndrome
affecting 5 members of a family. Five of 7 members (father,
2 sons, and 2 daughters) of a Jordanian family were referred
for ptosis repair. They all had bilateral severe ptosis present
since birth, with poor levator function, bilateral blepharo-
phimosis, and telecanthus (Fig 1 [figures available at http://
aaojournal.org]). Further examination showed adhesion of
plica semilunaris to upper palpebral conjunctiva behind the
upper punctum bilaterally (Fig 2). Both canaliculi were
elongated, but the upper lacrimal drainage system was oth-
erwise normal. Eyelashes were misdirected vertically in the
lateral part of the eyelids, and the supraorbital ridge was
hypoplastic. All had high refractive errors (both hyperopia
and myopia) and amblyopia, with best-corrected visual acu-
ity ranging from 6/12 to 6/60.
The father was found to have bilateral central corneal
opacity with trichiasis. The youngest son and daughter had
right convergent squint and hypertropia. There were no
other extraocular facial abnormalities, except lowset ears in
the youngest son. Further systemic assessment did not re-
veal any physical or developmental abnormalities such as
amenorrhea, heart defects, skeletal retardation, or mental
retardation. All affected members were reluctant to have
genetic testing. The other members (mother, 1 daughter, and
paternal grandparents) did not show any abnormal features,
and they were unaware of a similar condition in other
relatives.
All patients underwent medial and lateral canthoplasty
followed by brow suspension after 3 months. Adhesion
between plica semilunaris and upper palpebral conjunctiva
was not repaired, as it did not have any functional or
cosmetic significance. In addition, the father underwent
surgery for trichiasis of the lower eyelids and was referred
to the corneal department for further management. Correc-
tion of the misdirected eyelashes was not recommended to
the other patients because they were asymptomatic.
Blepharophimosis syndrome is typically characterized
by 4 major features: ptosis, blepharophimosis, telecanthus,
and epicanthus inversus.1 Various extraocular facial anom-
alies are reported in association with this syndrome such as
lateral ectropion, strabismus, and lacrimal drainage system
anomalies.2 The affected members of this family were
found to have all major diagnostic features except epican-
thus inversus and lacked other extraocular facial anomalies
usually present in this syndrome. All patients had bilateral
adhesion of plica semilunaris to upper palpebral conjunctiva
behind the upper punctum in addition to vertical misdirec-
tion of eyelashes in the lateral part of the eyelids. These
features are new and not previously reported (Fig 2).
Many syndromes have been said to be associated with
blepharophimosis, ptosis, and telecanthus as the main fea-
tures, in addition to other systemic findings such as congenital
heart defects, mental retardation, and teeth abnormalities. Ex-
amples of these syndromes are Ohdo blepharophimosis syn-
drome, MardenWalker syndrome, and SchwartzJampel syn-
drome. None of our patients has systemic features of these
syndromes.
The inheritance of blepharophimosis syndrome is known
to be autosomal dominant. To unveil the underlying molec-
ular defect of this syndrome, various molecular genetic tests
have been undertaken, and currently, FOXL2 is the only
gene known to be associated with it.3 The inheritance pat-
tern in this family could be autosomal dominant, as one
parent and 4 of 5 children were affected. As a similar
condition was not reported in other relatives, we believe the
father may represent a de novo gene mutation.
Timing and order of surgical correction of the eyelid
abnormalities are controversial, but the general agreement is
to start with telecanthus repair at the age of 3 years, fol-
lowed by ptosis correction with brow suspension after 3 to
6 months, as the upper lid position can be affected by
telecanthus repair. However, these procedures can be done
at the same session or in reverse sequence if there is a risk
of deprivation amblyopia.4 Adhesion between the plica
semilunaris and palpebral conjunctiva can be carefully di-
vided, avoiding upper drainage system injury, and to pre-
vent readhesion, mucous membrane or amniotic membrane
grafting can be used.
In conclusion, in the absence of one major criterion and
other extraocular features and the presence of the above-
mentioned new findings, we believe that these patients are
cases of atypical blepharophimosis syndrome affecting 5
members of a family.
THABIT MUSTAFA
Irbid, Jordan
KIMIA ZIAHOSSEINI
Manchester, United Kingdom
References
1. Townes PL, Muechler EK. Blepharophimosis, ptosis, epican-
thus inversus, and primary amenorrhoea: a dominant trait.
Arch Ophthalmol 1979;97:1664 6.
2. Kohn R. Additional lacrimal findings in the syndrome of blepha-
roptosis, blepharophimosis, epicanthus inversus, and telecanthus.
J Pediatr Ophthalmol Strabismus 1983;20:98 100.
3. Beysen D, Raes J, Leroy BP, et al. Deletions involving long-
range conserved nongenic sequences upstream and downstream
of FOXL2 as a novel disease-causing mechanism in blepharo-
phimosis syndrome. Am J Hum Genet 2005;77:20518.
4. Beckingsale PS, Sullivan TJ, Wong VA, Oley C. Blepha-
rophimosis: a recommendation for early surgery in patients with
severe ptosis. Clin Experiment Ophthalmol 2003;31:138 42.
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 Ophthalmology Volume 114, Number 5, May 2007

Figure 1. All affected members, demonstrating blepharophimosis syn-

drome features.

Figure 2. Adhesion between plica semilunaris and upper palpebral con-

junctiva behind the upper punctum.

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