| CASE REPORT |
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|Year : 1990 | Volume : 38 | Issue : 2 | Page : 97-99 |
VP Gupta1, DK Sen2
1 University College of Medical Sciences & Guru Teg Bahadur Hospital, Shahdara. Delhi - 110 095, India
2 Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi - 110 001, India
V P Gupta
University college of Medical Sciences, & Guru Teg Bahadur Hospital, Shahdara, Delhi - 110 095
A rare case of unilateral cryptophthalmos have unique findings is reported. The lateral part of the left eye was replaced by downward extension of the frontal hairline. The left upper eyelid, except in the lateral 4mm fully developed portion, was replaced by a fold adherent to the underlying disorganized globe (6.9 mm). The lower lid, however, was fully developed. Ocular and systemic features of cryptophthalmos have been reviewed. Predilection for the left eye in unilateral cases has been hinted for the first time.
|How to cite this article: |
Gupta V P, Sen D K. Unilateral cryptophthalmos. Indian J Ophthalmol 1990;38:97-9
| Introduction || || |
Cryptophthalmos is a rare congenital anomaly characterized by an uninterrupted continuity of the skin extending from the forehead to the malar region. The condition is usually bilateral, unilateral involvement being very rare; on, about 10 unilateral cases have been reported so far ,,,. Cryptophthalmos with associated systemic anomalies is known as cryptophthalmos syndrome,
Francois syndrome or Fraser syndrome ,,. This article reports a rare case of unilateral cryptophthalmos with unique ocular and systemic findings.
| Case report || || |
A 16 years old boy was brought to us with abnormality in his left eye since birth. The patient was born by spontaneous vaginal delivery after full term gestation. Antenatal history was unremarkable. There was no history of consanguineous marriages in the family. The patient has three brothers, and both parents are alive.
None of them has any noticeable illness or any ocular abnormality.
Ocular examination did not reveal any abnormality in his right eye with unaided visual acuity of 6/6. On the left side the lateral part of the eyebrow was replaced by a downward extension of the frontal hair line [Figure - 1][Figure - 2]. Only a few remnants were visible near the root of the nose. The upper eye lid, except in the lateral 4mm portion which had lid margin and eyelashes, was replaced by a fold of skin extending from the forehead [Figure - 2]. The tarsal plate could not be palpated through this skin fold. Lower lid was fully developed with normal eyelashes; however owing to everted lower lid the intermarginal strip and lower palpebral conjunctiva were partially keratinized with blocked punctum [Figure - 2]. Caruncle was present normally. There was a thin horizontal cleft between the lateral developed portion of the upper lid [Figure - 2] and the lowerlid through which oozing of clear fluid was also noticed.
Rudimentary eyeball could be palpated and its movements felt through the skin fold replacing the upperlid. The fold of the skin was adherent to the occult globe; the adherent skin moved with the movement of the globe. Voluntary and conjugate movements of the globe could be perceived. Visual acuity was no perception of light; no reflex could be generated by strong light. Orbicularis action could be elicited by sudden strong sound.
Other abnormalities were also noticed. The left half of the face appeared, hypoplastic [Figure - 1]. Multiple vitiligo patches were seen on the right side of the chest and back as well as on the elbow[Figure - 3]. Stammering while speaking was noted. I.O. was 66.
Skiagrams of skull and chest were normal. X-rays orbits revealed a generalised decrease in the size of the left orbit. Skiagram vertebral column showed thoracic kyphoscoliosis and lumbar lordosis. The karyotype was unremarkable.
Ultrasonography-with-A-Scan ultrasonography, the size of the eye ball was 6.9 mm. No lens spikes were seen. Medium to high amplitude spikes suggestive of organized vitreous membranes were present [Figure - 4].
| Discussion || || |
The condition was apparently first described by Sainthilaire in 1832 . However, the term cryptophthalmos was introduced by Zehender and Manz in 1872 . Francois  after extensively reviewing the literature described the ocular signs and associated systemic features of the condition in a comprehensive manner. He divided the condition in three forms:
(1) Complete (typical) cryptophthalmos - This is the result of total failure of eyelid fold formation. The lids are replaced by a layer of skin extending from forehead to cheek with the absence or poor development of the eyebrow. The cornea undergoes metaplasia to skin and so appears to be absent. There is no conjunctival sac. Eyelashes, lacrimal gland and puncta are also missing. Microphthalmos is usual. The occult eyeball gives rise to an elevation in the overlying skin which moves with the eye movements.
(2) Incomplete (atypical) Cryptophthalmos- Incomplete form is likely to result if whole of the lid fold has developed subnormally. Rudimentary lids are present with a small conjunctival sac placed laterally. The palpebral aperture is about one-third of the normal length. The globe is usually small and almost completely covered by skin. However, in some of the cases only the nasal aspect of the lid fold is affected so that, the lateral portion of the eyelids remains normal ,
(3) Abortive form of congenital symblepharon- This form may result from failure of the portion of the lid fold derived from the frontonasal process while the portion derived from the maxillary process develops normally. This explains the abnormal upperlid and a normal lowerlid. The upperlid without a defined margin covers and adheres to upto 75% of the upper cornea. The lid has no punctum and there is no upper conjunctival fornix. However, the lower eyelid is normal. The globe is usually of the normal size but may be small.
The ocular signs of the present case, however, do not appear to fit completely in any of the above groups. In our patient though the lowerlid was normally developed. the upperlid was replaced by a fold of skin running from the forehead except in the lateral 4 mm portion which had lid margin and eyelashes as well. Moreover, the skin fold was adherent to the underlying anterior surface of the globe. The size of globe was also very small (6.9mm) as measured by ultrasonography.
Although some of the features of this case meet the criteria of congenital symblepharon group, the fully developed lateral 4 mm of upperlid and disorganized globe fully covered by the skin fold go against this group of anomalies. However, the lateral portion of eyelids remains normal in partial cryptophthalmos ,
This case with unique ocular signs thus suggests that in a given case it is possible to have different permutation and combinations of clinical features of the three forms described by Francois  .It, is, therefore, not always easy to place a given case in any of the above groups.
Absence of any response to strong light as well as no perception of light indicated that the occult globe is disorgnaized(9) which was confirmed by ultrasonography. Oozing of tears through the cleft between the lateral part of the upperlid and lowerlid suggests the presence of lacrimal gland. Ocular findings of this case do not match with previously reported unilateral cryptophthalmos cases by Waring & Shields  sub and Howard et al .
Systemic associations of crypto6phthalmos have been described by various authors , The common associated anomalies include syndactyly, genitourinary and craniofacial anomalies. The less commonly seen anomalies include spina bifida, meningoencephaloceles, deformed ears or teeth, cleft palate or lip, laryngeal or anal atresia, umbilical hernia, cardiac anomalies and mental retardation. In the patient reported except for hypoplasia of left half of face, stammering and mental retardation, none of the several reported associations were seen. There was however presence of thoracic kyphoscoliosis, lumbar lordosis and vitiligo patches which have not been previously reported.
Chromosomal analysis revealed a normal karyotype which rules out any chromosomal aberration in this patient. Our finding is in favour of previous reports.. Though there is enough evidence to suggest that cryptophthalmos is transmitted as an autosomal recessive trait ,, the family history of this patient does not favour this.
The incidence of cryptophthalmos is not known. Complete cryptophthalmos is the most common. Partial(atypical) cryptophthalmos comprises about 20% of the cases. Bilateral involvement has been reported more often that unilateral cases. In unilateral cases the other eye may have symblepharon, coloboma of eyelids and corneal opacification. The fellow eye of this patient did not reveal any abnormality. We have reviewed the literature of unilateral cryptophthalmos cases. In most of the unilateral (1-4) cases as well as our case the left eye was affected. Such a predilection for left eye has not been hinted in literature. Whether it is a mere coincidence or it has got some embryological basis is not known.
Although the patient visited us for cosmetic purposes, in view of extensive deformity and disorganized globe any reconstructive surgery was considered impossible,. However, for aesthetic reasons plastic reconstruction of abnormal hairline and spectacle prosthesis were suggested.
| References || || |
|1. ||Francois J: Syndrome malformatif avec cryptophthalmic Act Genet Med Gemellol(Roma) 18: 18-50, 1969. |
|2. ||Brazier D.J., Hardman LEA SJ, and Collin JR: Cryptophthalmos Surgical treatment of the congenital symblepharon variant, Brint J. Ophthalmol 70: 391-395,1986. |
|3. ||Waring G.O. &Shields J.A. Partial unilateral cryptophthalmos with syndactyly, Brachycephaly and renal anomalies. Amer J. Ophthalmol 979: 437-440, 1975. |
|4. ||Howard R.O. & Robert Fineman et al: Unilateral cryptophthalmos Amer J. Ophthalmol 87 : 556-60, 1979. |
|5. ||Fraser CR : Our genetic load. A. review of some aspects of genetic variation. Ann Hum Genet 25 : 387-415, 1962. |
|6. ||Codere F, Brownstein S and chen MF: Cryptophthalmos syndrome with bilateral renal agenecies. Amer J. Ophthalmol 91:737,1981. |
|7. ||Emburger J M, Pincemin D, Taib J, Caderas de Kerleau J. Etude: anatomique d' une observation de cryptophthalmie familiale : J. Genet Hum 24 Suppl: 23-9, 1976. |
|8. ||Duke-Elder S : System of Ophthalmology, London, Kimpton. 3: 827-33, 1964. |
|9. ||Zhang Hancheng : Cryptophthalmos: a report on three sibling cases, Brit J. Ophthalmol 70: 72-74, 1986. |
|10. ||Ide CH, Wollschlaeger PB : Multiple congenital abnormalities associated with cryptophthalmia, Arch Ophthalmol 81: 640-4, 1969. |
|11. ||Srinivas C: Cryptophthalmos - case report, Afro-Asian J.Ophthalmol VI: 79-80, 1987. |
|12. ||Tavermer P S Vaya BS : Congenital Bilateral Cryptophthalmossurgical attempt for a cosmetic reconstruction, Ophthalmic lit. 32:532 (Abstr Arruga A), 1978. |
Figures [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]
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