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Isolated Bilateral Complete Cryptophthalmos
Javed Hussain Farooqui1, Thanh Huy Thiên Hà2, Ahmed Gomaa3,4

1Dr. Shroff’s Charity Eye Hospital
2Department of Ophthalmic Trauma

Vietnam National Institute of Ophthalmology
3Moorfields Eye Hospital, London, UK

4Department of Ophthalmology, Cairo University, Cairo, Egypt

Abstract

Cryptophthalmos is a rare congenital anomaly, characterized by extension of the 
skin continuously from forehead onto the cheeks and covering eyeballs. Although 
cryptophthalmos, as a part of Fraser syndrome, has been reported many times, isolated 
cryptophthalmos without systemic associations is very rare. We present a 6-month-
old child with isolated bilateral complete cryptophthalmos, which to the best of our 
knowledge, is the first case of cryptophthalmos being reported from Vietnam.  

Keywords: Cryptophalmos, congenital, eyeball

Case Report

Farooqui et al 
Isolated BL Crytophthalmos

Nepal J Ophthalmol 2016; 8(16): 186-188

Received:  28/05/16 Accepted: 26/06/16
Address for Correspondence
Dr Javed Hussain Farooqui, Medical Officer 
Comprehensive Ophthalmology
Dr. Shroff’s Charity Eye Hospital
5027, Kedarnath Marg, Daryaganj
New Delhi- 110002
Phone: +91-9599444445
Email: jhfarooqui@gmail.com

Introduction
Cryptophthalmos (CO) is a rare congenital 
condition in which eyelids are unable to 
divide in the embryo and the skin extends 
continuously from forehead onto the cheeks 
covering eyeballs. (Coulon et al 1994, Seal et 
al 992, Kanhere et al 1999)  It is described only 
one and a half century ago, and appears with a 
frequency of 20 for every 100,000 newborns 
(González-Treviño et al 2008).  CO is classified 
into three types: complete, incomplete and 
abortive (Kanhere et al 1999). Both autosomal 
recessive and autosomal dominant inheritance 
have been described, but most cases are 
autosomal recessive, with consanguinity being 
reported in 15% to 24.8% cases (Stevens et al 
1994, Ramsing et al 1990, Schauer et al 1990, 

Berg et al 2001, Slavotinek et al 2002).  CO is 
usually accompanied by urogenital anomalies, 
syndactyly, and cognitive disorders, and is 
termed as Fraser Syndrome(Stevens et al 1994, 
Ramsing et al 1990, Schauer et al 1990, Berg et 
al 2001, Slavotinek et al 2002). Very rarely, it’s 
isolated without any syndromic associations 
(Kanhere et al 1999).  We are reporting a case 
of isolated bilateral complete case of CO, 
which to the best of our knowledge is the first 
case of cryptophthalmos from Vietnam and 
only the 8th case of isolated bilateral complete 
Cryptophthalmos (without any systemic 
associations) ever reported (Chaudhary et al 
2010). 

Case report
A 6 months old male child from Vietnam 
presented to Orbis Flying Eye Hospital Program 
with bilateral complete cryptophthalmos. He 
was the first child born to 25 years old mother. 
There is no history of consanguinity. The child 
was delivered by cesarean section at term. 

mailto:jhfarooqui@gmail.com


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Farooqui et al 
Isolated BL Crytophthalmos
Nepal J Ophthalmol 2016; 8(16): 186-188

There were no postnatal complications. Birth 
weight was 3kgs, with an Apgar score of 9 and 
no respiratory distress. The child had normal 
head circumference. On examination, his eyes 
were completely covered by skin with absence 
of brows, eye lids, lashes and palpebral aperture 
in both sides. (Figure 1) Spontaneous globe 
movements could be detected under the skin, 
with soft eyeball palpable bilaterally. The left 
globe appeared to be smaller in size compared 
to the right.  The child had hypertelorism with 
depressed hypoplastic nasal bridge. There was 
no umbilical hernia or genito- urinary defects. 
There were no other congenital defects of 
fingers, ears (Figure 2), nose or larynx. MRI 
(Magnetic Rsonance Imaging) showed two eye 
balls with intact outer wall, with no lens seen 
in both globes. (Figure 3a) B Scan confirmed 
absence of the crystalline lens. (Figure 3b)

Discussion
The association between cryptophthalmos and 
multiple congenital anomalies has been well 
described over the last century, with Thomas 
describing the diagnostic criteria for Fraser 
Syndrome (Stevens et al 1994, Ramsing et al 
1990, Schauer et al 1990, Berg et al 2001).  The 
pathogenesis of this condition is unknown, with 
some studies documenting similarities with 
animal models showing Vitamin A deficiencies 
and defects in programmed cell death (Thomas 
et al 1986). Prenatal diagnosis and subsequent 
management is still a challenge, especially in 
the developing world Good prenatal screening 
can help physicians with recognition of some 
of its characteristics through ultrasonography 
(USG) examination of the eyes, digits, kidney, 
and lungs in utero (Berg et al 2001).  Bilateral 
orbital reconstruction with corneal graft and 
anterior vitrectomy and lid reconstruction has 
been described for such cases, but the visual 
deficit usually persists due to clouding of 
corneal grafts (Kanhere et al 1999, Chaudhary 
et al 2010). In our case we deferred surgery, 
due to extensive anterior segment digenesis as 

Figure 1: 6 month old child with bilateral 
complete cryptophthalmos

Figure 2: Right and left ear

a b
Figure 3: (a) Coronal MRI scan showing 
absence of crystalline lens (b) USG B-scan 
showing absence of crystalline lens.



188

evident on MRI and USG B Scan. Also, the 
surgery is a staged procedure which requires 
continued care over a long period of time. We 
did not plan surgery in this patient because 
of the lack of infrastructure and expertise in 
managing this case,

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Source of support: nil. Conflict of interest: none

Farooqui et al 
Isolated BL Crytophthalmos

Nepal J Ophthalmol 2016; 8(16): 186-188