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   Table of Contents      
CASE REPORT
Year : 1980  |  Volume : 28  |  Issue : 4  |  Page : 231-235

Bilateral cryptophthalmos-syndactyly syndrome


A.M.U. Institute of Ophthalmology, Aligarh, India

Correspondence Address:
G P Gupta
AMU Institute of Ophthalmology, Aligarh (U.P.)
India
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Source of Support: None, Conflict of Interest: None


PMID: 6269993

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How to cite this article:
Gupta G P, Gogi R. Bilateral cryptophthalmos-syndactyly syndrome. Indian J Ophthalmol 1980;28:231-5

How to cite this URL:
Gupta G P, Gogi R. Bilateral cryptophthalmos-syndactyly syndrome. Indian J Ophthalmol [serial online] 1980 [cited 2020 Aug 15];28:231-5. Available from: http://www.ijo.in/text.asp?1980/28/4/231/28266

Cryptophalmos is a rare congenital condition of total ablepharon where in there is complete failure of the lid folds. The skin passes continuously from the forehead over the eye on to the cheek. It was first described by Zehender[1] and Manz[2]. The anomaly is often bilateral[3] but unilateral cases with ocular ano­malies in the other eye have also been described [4],[5],[6],[7],[8]. Franηois[9] described this condition as a "mal formative syndrome with cryptoph­thalmia" with four characteristics i.e. crypto­phthalmia, dyscephaly, syndactyly and malformation of genitalia. A few cases have also been reported from India[10],[11],[12],[13]. These studies show that not much has been described about pathology of cryptophthalmic eyes[14]. The present case is being reported because of its clinical curiosity where a detai­led pathological examination has also been carried out.


  Case report Top


A nine months Hindu female child was admitted with the complaints of complete absence of lids in both eyes since birth [Figure l]a. The child was fairly built and had partial syndactyly of both hands and feet. [Figure l]b While crying the child had low pitched muffled tone. There was a small umbilical hernia. There was no family history of such anomaly. There was no history of consanguinity.

The face presented a grossly anomalous appearance. The skin of the forehead on both sides dipped down over the orbits and passed continuously on to the, cheeks [Figure - 1] a. The right eye brow was better demarcated than the left. All the pal­pebral structures were missing and there were no eve lashes. In the case of the orbits the position of the eyes was indicated by the pro­minence which was more marked on the right than the left side. The eyeballs could be felt ,and their movements appreciated. X-ray of orbits (P.A. view) and lateral view of skull showed slight enlargement of right orbit with­out any abnormality in the skull

The child was operated under general anaesthesia. A horizontal incision over the skin of right eye was made and gradually dissected till it opened in a cavity where cor­nea was visible and cleavage was possible to some extent. There was fibrovascular tissue which blended the periphery of the ectatic cornea with overlying skin. Careful dissection could separate the skin from the globe. Pre­suming the lining of the undersurface of separ­ated skin folds as disorganized conjunctiva, it was undermined and the margin of underlying tissue was stitched to the skin with an attempt to convert skin folds into lids with a palpebral aperture [Figure - 2]. A small piece of full thick­ness of skin was taken for histopathology. Antibiotic ointment was smeared over the cor­nea and in the so formed cul de sac. The eye appeared blind as the child did not respond to light. The artificial cleavage which was made as conjunctival cul de sac began to obliterate the third day and the skin folds were sticking to the globe again leaving the cornea exposed. Finding the visual prognosis hopeless the eyeball was enucleated with the idea that a subsequent reconstruction of the socket may provide a better cosmetic appearance following artificial prosthesis. On enucleation it was found that there was no definite conjunctival membrane, there was fibrovascular tissue over the sclera and extraocular muscles appeared normal.


  Pathological examination Top


On gross examination eyeball measured 30 mm in antero-posterior dimensions. Cornea, was thin and. protruding forward. Only a rim of iris could be seen at the peripheral part.." of deep anterior chamber. There was total detachment of retina. [Figure - 3]a

Histopathology of the skin over the eyeball showed stratified squamous epithelium. seba­ceous glands, hair follicles along with striated muscle fibres (orbicularis oculi). Microscopic examination of the eyeball demonstrated fibro­connective tissue covering the cornea. Endo­thelial lining of cornea was incomplete and gaps were filled up with mesodermal tissue. Anterior chamber was deep. The trabecular meshwork was absent and was replaced by dense mesenchymal tissue. Immature meso­dermal tissue was covering the angle of ante­rior chamber. A rim of iris tissue could be seen at the periphery of anterior chamber. The uveal tract was atrophic. Retina was detached, disorganized, showed gliosis and was folded at the back of the normal lens [Figure - 3].


  Discussion Top


Cryptophthalmos is also known as ablepha­ron and complete congenital symblepharon. It can be differentiated from total ankyloblepharon which is secondary destruction of previously developed eye lids[10]. The present case is a typical bilateral cryptophthalmos with complete absence of conjunctival cul de sac. However, Parmar, et al [12] could demonstrate the pre­sence of conjunctival cul de sac in their case. The corneal epithelium was replaced by strati­fied squamous epithelium of the skin. There were remnants of mesodermal tissue at the back of cornea, angle of anterior chamber and on peripheral part of iris. This strongly supports that there is failure in differentiation of ectodermal and mesodermal tissues of the eye involving mostly anterior segment and to some extents the posterior segment. Apart from this there are other pathogenetic mecha­nisms reported by various workers[14],[15] such as intrauterine inflammations may produce fusion of eyelids to the globe or amniotic bands may cause pressure on the developing eyelids or there is normal eye lid development but symblepharon develops due to mal differentiation of conjunctiva.

Cryptophthalmos occurring due to primary failure in the proper differentiation of ectoder­mal tissues of the eye is hardly an isolated lesion, it is associated with many other anoma­lies and the most common is syndactyly. Perhaps that is the reason why Sugar[6] rightly preferred to call this complex as "Cryptoph­thalmos-Syndactyly syndrome". Although not so uncommon, atresia of larynx and umbilical hernia noticed in our case has been reported by Francois[15]

An autosomal recessive inheritance of cry­ptophthalmos is present in 15% of the cases specially when there is history of consangui­neous marriages and two or three siblings in one family may be affected[6]. Although majo­rity of cases are isolated, yet no associated chromosomal abnormality has been reported[7].


  Summary Top


A case of "Bilateral cryptophthalmos - Syndactyly Syndrome" has been reported. There was associated atresia of larynx and umbilical hernia. Histopathological exami­nation of such an eye has been described.


  Acknwoledgements Top


We are thankful to Mr. A.Y. Khan, Senior Technical Assistant and Mr. Aijaz Ali Siddiqui,

Technical Assistant for their careful assistance in carrying out the histopathological work of this communication.[17]

 
  References Top

1.
Zehender, W, 1872., Klin Mb. Augenh., 10:225.   Back to cited text no. 1
    
2.
Manz., 1872., Auges. Graefe-Saemish Hand­ buch., 2:103.  Back to cited text no. 2
    
3.
Avizonis, P., 1928., Z. Augenh., 64:240.  Back to cited text no. 3
    
4.
Key, S.N., 1920., Amer. J. Ophthalmal., 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.
Waring, G.O. and Shields, J.A., 1975., Amer. J. Ophthalmol., 79:437.  Back to cited text no. 7
    
8.
Goldhammer. Y. and Smith, J.L., 1975., Amer. J. Ophthalmol., 80:146.  Back to cited text no. 8
    
9.
Francois, J., 1962., Ophthalmogica.. 105:215.  Back to cited text no. 9
    
10.
Gupta, S.P. and Saxena, R.C , 1962., Brit. J, Ophthalmol,, 46:629.  Back to cited text no. 10
    
11.
Muthayya, R.E.S. and Ramalingham, T.T., 1949., Proc. All India Ophth. Soc., 10:81.   Back to cited text no. 11
    
12.
Parmar, I.P.S., Chandra, P. and Singh, I., 1972.1 Orient. Arch. Ophthalmol., 10:273.  Back to cited text no. 12
    
13.
Pahwa, J M., 1960, Proc. All-India, Ophthal. Soc., 19:1.  Back to cited text no. 13
    
14.
Duke-Elder, S., 1963.. System of Ophthalmo­logy, Vol. 3. Pt. 2. Congenital deformities. St. Louis, Mosby, 829 to 834.  Back to cited text no. 14
    
15.
Francois, J., 1969., Acta, Genet. Med. Gemellol. 18:18.  Back to cited text no. 15
    
16.
Thorp. A.T., 1945 , N. Can. Med. J., 6:484.  Back to cited text no. 16
    
17.
Clark, S., 1934., Brit. Med. J. 2:69.  Back to cited text no. 17
    


    Figures

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



 

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