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ARTICLES
Year : 1986  |  Volume : 34  |  Issue : 1  |  Page : 11-14

Unilateral cryptophthalmos (with syndactyly, laryngeal atresia and genital anomalies)


Government Ophthalmic Hospital, Madras, India

Correspondence Address:
M Guhanandhan
Government Ophthalmic Hospital, Madras
India
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Source of Support: None, Conflict of Interest: None


PMID: 2832326

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How to cite this article:
Guhanandhan M, Ramanathan P, Sunderraj P P, Ravikumar R. Unilateral cryptophthalmos (with syndactyly, laryngeal atresia and genital anomalies). Indian J Ophthalmol 1986;34:11-4

How to cite this URL:
Guhanandhan M, Ramanathan P, Sunderraj P P, Ravikumar R. Unilateral cryptophthalmos (with syndactyly, laryngeal atresia and genital anomalies). Indian J Ophthalmol [serial online] 1986 [cited 2020 Apr 7];34:11-4. Available from: http://www.ijo.in/text.asp?1986/34/1/11/26463

Cryptophthalmos (hidden eye) is a rare congenital anomaly in which there is com­plete failure of lid folds and hence eyelids are totally absent-the skin of the forehead is continuous with that of the cheek. It was first described by Zehender[1] and Manz[2]. It is usually associated with other congenital malformations like dyscephaly, syndactyly and urogenital anomalies[3]. Though unila­teral cases with or without ocular anomalies in the other eye have been described[4],[5],[6],[7] the majority are bilateral[3],[8].

A search of Indian literature has yielded eight cases since then[9],[10],[11],[12],[13],[14],[15],[16]. The follow­ing case is being presented because, to our knowledge, this is the second case of unila­teral cryptophthalmos to be reported from India.


  Case Report Top


A ten day old Hindu Female Child was admitted with complaint of complete closure of eyelids in the left eye since birth.

She was the fourth child. Full term nor­mal delivery. Other children are healthy. Consanguinity present (parents are first cousins). No family history of such abnor­mality. No history of any illness or drugs intake during pregnancy.

Baby moderately built with syndactyly of second, third, fourth and fifth toes in the left leg and second, third, and fourth toes in the right leg, [Figure - 1]. While crying the child had a muffled, grunting tone. It gasped occasionally on feeding. Indrawing of the sternal notch was present during breathing.

The skin of the forehead passed directly downwards, over the eyeballs, into the skin of the cheek on the left side. Eye lids totally absent. However, there was a horizontal, shallow, irregularly linear depression in the region of the palpebral fissure. Small sparse downy hairs were present here. Downy hairs were also present in the region of the eyebrow and this continued with the hairs of the temples [Figure - 2]. The prominence of the eyeball could be felt under the skin, which did not appear to be fixed to the eyeball as it could be pinched just separately from the globe. Occasional spontaneous movements of the eyeball present. When strong light was thrown on the eyeball, the covering skin wrinkled in response.

Baby had a high arched palate but no cleft. Ear, lips and nose were normal. Examination of external genitalia revealed hypertrophy of the clitoris, underdevelop­ment of the labia minora and vaginal atresia [Figure - 3]. No other abnormality was detect­ed on routine examination.

Right Eye was perfectly normal on detail­ed, Ophthalmic examination. Ultrasound (Real time B Mode) examination confirmed that right eye was normal; the left eye had a larger than normal anterior chamber and lens was not visualized. [Figure 4].

Under General Anaesthesia, a horizontal incision was made in the groove in the region of the palpebral fissure. The eyelids was partly dissected out from the eyeball with great difficulty. Cornea was opaque and apart from this only thick fibrovascular tissue was seen [Figure 5]. Since the Anterior segment was grossly maldeveloped and there was no chance for useful vision, the cut edges were sutured together.


  Discussion Top


Cryptophthalmos, otherwise called Ablepharon or Complete Congenital Sym­blepharon is charecterized by : Cryptophthal­mos, Dyscephaly, Syndactyly and Urogenital Malformations[3],[17].

The Ocular Malformation has three different forms-Complete Cryptophthalmos and Congenital Symblepharon[17]. In com­plete Cryptophthalmos, as seen in our case, the skin replaces the eye lids, covers the orbit and connects to the underlying eyeball.

Cryptophthalmos is usually bilateral. In fact, of the forty-six cases collected by Francois[17] till 1969, only five were unila­teral. A review of eleven Cryptophthalmos cases from India[9],[10],[11],[12],[13],[14],[15],[16],[17],[18] reveals that only one was unilaleral[9].

Not many cases have been studied histo­logically[19] and this case also belongs to the same category. However, Francois[17] has reviewed seventeen cases which have undergone histopathologic examination. Almost the same features were found by Gupta and Saxena[11] and Gupta and Gogi[16]. In their view the condition of Choroid and Retina may vary from normal to severe disorganisation. The response of this baby to strong light focussed on its eye­ball indicates the integrity of the Retina.

Dyscephaly is frequent and ranges from mild frontal bossing to meningoencephalo­cele. High arched palate, as in this patient, is an example. Other malformations that can occur include those of the ear, cleft lip, cleft palate and asymmetrical nares.

Syndactyly is present in about one-third of the cases and usually presents on the side of the cryptophthalmos[17]. This association is so characteristic that Sugar[6] has termed it the 'Cryptophthalmos-Syndactyly Syndrome'. There may be either complete fusion or basal fusion of the involved digits.

Genito-Urinary malformations occur in about twenty-five per cent of the cases and includes hypospadias, undescended testis, clitoral hypertophy and renal agenesis[19].

Hypertrophy of the clitoris, vaginal atresia and incomplete labial development in this case suggests Pseudohermaphroditism.

Other associated Systemic anomalies include Mental retardation, Umbilical hernia and Laryngeal atresia. The charac­teristic cry and breathing difficulties of this patient points towards Laryngeal atresia.

Most cases are sporadic[18] but autosomal recessive pattern of inheritance is present in approximately fifteen per cent of the cases, especially in families with consanguinous parents[6]. There is no sex predilection or associated chromosomal abnormality[19].

The pathogenesis of cryptophthalmos is not known and it appears that all cases are not due to the same cause[18]. There are various theories including:

a) Primary failure of mesodermal and ectodermal differentiation -'Ablepharan by Agenesis'.

b) The effect of intra-uterine inflamma­tion-'Ankyloblepharon by Ankylosis'.

c) Amniotic pressure on the developing eyelids due to Amniotic bands.

B-scan ultrasonography can outline the structure of the globe and aids the physician in selecting patients most likely to benefit from surgery[19]. Since the retina and its function was intact in our case, we tried to separate the eyelids, but with little success. Other authors too have experienced similar results[11],[14],[16] In fact. Chovet at al[20] have pointed out that the majority of operative attempts to attain useful visual acuity are contra-indicated, although eyelid reconstruc­tion is sometimes successful[21].


  Summary Top


A case of unilateral cryptophthalmos of the left eye with bilateral syndactyly is reported. Associated anomalies include high arched palate, laryngeal atresia, clitoral hypertrophy, incomplete development of labia minora and vaginal atresia.


  Acknowledgement Top


We thank the Superintendent, Govern­ment Ophthalmic Hospital, Madras for per­mitting us to publish this paper. Our thanks also to Dr. S. Suresh and Dr. V. Siddharthan.

 
  References Top

1.
Zehender V.W., 1872, Klin Monatsbl. Augenhei­lkd 10 : 225.  Back to cited text no. 1
    
2.
Manz, 1872, Klin Monatsbl. Augenheilkd 10: 234.  Back to cited text no. 2
    
3.
Francois. J., 1965, Ophthalmologica 150 : 215.  Back to cited text no. 3
    
4.
Key. S.N., 1920, Amer. J. Ophthalmol, 3 : 684.   Back to cited text no. 4
    
5.
Magruder A.C. 1921, Amer J. Ophthalmol, 4 : 48  Back to cited text no. 5
    
6.
Sugar H.S., 1968, Amer. J, Ophthalmol, 66: 897.   Back to cited text no. 6
    
7.
Goldhammer Y. and Smith L., 1975. Am. J. Ophthalmol 80: 146.  Back to cited text no. 7
    
8.
Avizoniz P.Z. 1928, Augenheilkd 64: 240.  Back to cited text no. 8
    
9.
Muthayya R.E.S. and Ramalingam T.T. 1949, Proc. All Ind. Ophthalmol, Soc. 10 : 81  Back to cited text no. 9
    
10.
Pahwa J.M. 1960, Proc. All Ind. Ophthalmol, Soc. 19: 64.  Back to cited text no. 10
    
11.
Gupta S.P. and Saxena R.C., 1962, Brit. J. Ophthalmol, 46: 629.  Back to cited text no. 11
    
12.
Dada V.K. and Agarwal L.P. 1969, Orient Arch. Ophthalmol, 7 : 126.  Back to cited text no. 12
    
13.
Parmar I.P.S., Chandra P. and Singh I. 1972, Orient Arch Ophthalmol, 10 : 273.  Back to cited text no. 13
    
14.
Das B., 1974, Ind. J. Ophthalmol, 22 (4) : 24.   Back to cited text no. 14
    
15.
Sen S.C., 1977, Ind. J. Ophthalmol, 24 (4): 29.  Back to cited text no. 15
    
16.
Gupta G.P. and Gogi R., 1981, Ind. J, Ophthal­mol, 18 : 231.  Back to cited text no. 16
    
17.
Francois J., 1969, Acta Genet. Med. Gemellol:18 : 18.  Back to cited text no. 17
    
18.
Duke-Elder S. 1964, Systems of Ophthalmology Vol III (Part 2) p. 829-834 Henry Kimpton, London  Back to cited text no. 18
    
19.
Waring G.O. and Shields J.A., 1975, Amer. J. Ophthalmol, 79 : 437.  Back to cited text no. 19
    
20.
Chovet M., Dufoux J. and Degabriel J. Medicine Tropicale 32 : 419.  Back to cited text no. 20
    
21.
Reinecke R.D,, 1971, Arch. Ophthalmol, 85:376.  Back to cited text no. 21
    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3]



 

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