Year : 1991 | Volume
: 39 | Issue : 3 | Page : 132--133
Congenital unilateral absence of orbit with anophthalmos and partial arhinia
Pavan Shorey, Grace Lobo
Department of Ophthalmology, Goa Medical College, Panjim, Goa, India
Dept, of Ophthalmology, Jawaharlal Institute of Postgraduate Medical Education and Research, Dhanvantri Nagar, Pondicherry - 605 006
Congenital unilateral absence of orbit is a very rare clinical entity. An 18 month old female child with an unilateral absence of orbit with clinical anophthalmos and partial arhinia is presented. X-ray of the skull revealed an absence of the bony orbit on the left side. Unlike previously described cases of absence of the orbit, this maldevelopment is unilateral and present in an otherwise normal thriving child.
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Shorey P, Lobo G. Congenital unilateral absence of orbit with anophthalmos and partial arhinia.Indian J Ophthalmol 1991;39:132-133
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Shorey P, Lobo G. Congenital unilateral absence of orbit with anophthalmos and partial arhinia. Indian J Ophthalmol [serial online] 1991 [cited 2023 Apr 2 ];39:132-133
Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?1991/39/3/132/24451
Congenital absence of the orbit is very rare . Duke Elder could collect some cases of gross cerebral deformities and complete absence of the orbit in early literature reported by Klin Korth (1976), Rudoplhi (1818) and Liebreich (1873) . These cases were more of pathology specimens and the deformities were severe and inconsistent with life. We report a case of congenital unilateral absence of the orbit with anophthalmos and partial arhinia.
An 18 month old female child presented with deformity of the left side of the face which was present since birth. It was a full term normal delivery, born of non consanguineous parents. The milestones of the child were normal. She had a normal four year old brother. On examination, the left orbit, eye and nostril were absent. The orbital area was covered with skin. On palpation, the orbital margins could not be felt. Instead from the left atresic nostril a funnel shaped swelling was seen which gradually broadened to end in the area of the supraorbital region. The margins of this swelling were smooth and the consistency was hard. There was no impulse on coughing and transillumination was negative. At the lateral end of this swelling, rudiments of the eyebrows, lids and clinical anophthalmos were seen. There was atresia of the left nostril and a central furrow was seen separating this from the right normal nostril. The left cheek muscles were slightly underdeveloped [Figure 1]. There was no deformity of the ears. The right orbit, ocular adnexa as well as the anterior and posterior segment of the right eye exhibited no abnormality.
Systemic examination of the child failed to reveal. any associated anomaly. The neurological examination was normal. The X-ray of the skull showed an absence of the left orbit and a prominent sphenoidal ridge [Figure 2].
All developmental anomalies have a starting point before which the development was normal and after which it deviated. As a general rule it is obvious that the more gross the abnormality the earlier in embryonic life it arose  At the 4 mm. stage the optic vesicle develops surrounded completely by the paraxial mesoderm. The maxillary process of the visceral mesoderm supports it from below and laterally. The orbit and its related structures are formed form this surrounding mesoderm. The maxillary process of the first branchial arch forms the orbital floor and the lateral wall of the orbit while the paraxial mesoderm forms the roof, medial wall the orbit as well as its contents  It is possible that at the 4 mm. stage a suppression or a grossly anomalous development occurred at the anterior part of the neural tube resulting in anophthalmos, non development of orbit and partial absence of the nose, a derivative of the first branchial arch.
Hemifacial hypoplasia due to malformations of the derivatives of the first and second branchial arches was considered in the diagnosis of this case but the absence of microtia (small ears) and macrostomia ruled out this clinical entity 
The unilaterality of this maldevelopment and the association of anophthalmos with absence of the orbit are some of the paradoxes which are difficult to explain. Broadly speaking the orbits and its contents are self determining structures and the maldevelopment of the ocular globe has little effect on the growth of the orbit and its contents 5 although Har Harley (1983) does not agree with this view and states that failure of ocular development apparently does prevent orbital development .
To the best of our knowledge this is one of the rare cases of its kind to be reported in literature. It is significant because this maldevelopment is unilateral and is present in an otherwise normal thriving child contrary to the previously reported cases in early literature.
|1||Harley RD (Ed). Paediatric Ophthalmology. Second Edition. W B Saunders Company. Tokyo. 1983. Vol 2 : 350-51.|
|2||Duke Elder S. Normal and abnormal development : Congenital deformities : System of Ophthalmology, Vol. 3. C V Mosby Co St. Louis. 1963 : pg. 418.|
|3||Miller M, Pruzansky S. Craniofacial Anomalies. In Peyman GA, Sanders DR, Goldberg MF (Ed). Principles and practice of Ophthalmology, Philadelphia, W B Saunders Company : 1980, Vol. 3, pg 2409.|
|4||Picco G, Townsend W. Congenital and developmental anomalies of the orbit. In Duane TD (Ed) : Clinical Ophthalmology Philadelphia, Harper and Row 1984, Chapter 30, pg 1.|