|Year : 1986 | Volume
| Issue : 1 | Page : 11-14
Unilateral cryptophthalmos (with syndactyly, laryngeal atresia and genital anomalies)
M Guhanandhan, P Ramanathan, PP Sunderraj, R Ravikumar
Government Ophthalmic Hospital, Madras, India
Government Ophthalmic Hospital, Madras
Source of Support: None, Conflict of Interest: None
|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 Jul 2];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 and Manz. It is usually associated with other congenital malformations like dyscephaly, syndactyly and urogenital anomalies. Though unilateral cases with or without ocular anomalies in the other eye have been described,,, the majority are bilateral,.
A search of Indian literature has yielded eight cases since then,,,,,,,. 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|| |
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|| |
Cryptophthalmos, otherwise called Ablepharon or Complete Congenital Symblepharon is charecterized by : Cryptophthalmos, Dyscephaly, Syndactyly and Urogenital Malformations,.
The Ocular Malformation has three different forms-Complete Cryptophthalmos and Congenital Symblepharon. 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 till 1969, only five were unilateral. A review of eleven Cryptophthalmos cases from India,,,,,,,,, reveals that only one was unilaleral.
Not many cases have been studied histologically and this case also belongs to the same category. However, Francois has reviewed seventeen cases which have undergone histopathologic examination. Almost the same features were found by Gupta and Saxena and Gupta and Gogi. 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. This association is so characteristic that Sugar 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.
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 but autosomal recessive pattern of inheritance is present in approximately fifteen per cent of the cases, especially in families with consanguinous parents. There is no sex predilection or associated chromosomal abnormality.
The pathogenesis of cryptophthalmos is not known and it appears that all cases are not due to the same cause. 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. 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,, In fact. Chovet at al have pointed out that the majority of operative attempts to attain useful visual acuity are contra-indicated, although eyelid reconstruction is sometimes successful.
| Summary|| |
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|| |
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|| |
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[Figure - 1], [Figure - 2], [Figure - 3]