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   Table of Contents      
CASE REPORT
Year : 1989  |  Volume : 37  |  Issue : 1  |  Page : 32-34

Ectopia lentis et pupillae


1/319 Sadar Bazar, Delhi Cantt - 110 010, India

Correspondence Address:
Naresh K Gupta
1/319 Sadar Bazar, Delhi Cantt - 110 010
India
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Source of Support: None, Conflict of Interest: None


PMID: 2807501

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  Abstract 

A rare case of congenital bilateral ectopia lentis et pupillae (ELEP) is reported in a 32 year old female presenting with complaints of diminution of vision in both eyes. Associations of optic nerve hypoplasia and myelinated nerve fibers are being reported for the first time in such a case. The aetiopathogenesis of ELEP is controversial. Combined neuroectodermal and mesodermal origin is being postulated for this syndrome on the basis of aforesaid abnormalities and presence of pupillary dilator muscle hypoplasia, "annular endotheliopathy", and persistent pupillary membrane in both eyes.

Keywords: Ectopia lentis - ectopia lentis et pupillae - congenital ocular abnormalities - specular microscopy - optic nerve hy-poplasia - myelinated nerve fibres


How to cite this article:
Gupta NK, Ayra AV, Azad R. Ectopia lentis et pupillae. Indian J Ophthalmol 1989;37:32-4

How to cite this URL:
Gupta NK, Ayra AV, Azad R. Ectopia lentis et pupillae. Indian J Ophthalmol [serial online] 1989 [cited 2019 Nov 19];37:32-4. Available from: http://www.ijo.in/text.asp?1989/37/1/32/26104


  Introduction Top


Ectopia lentis et pupillae is a rare congenital disorder wherein the pupil and the lens are displaced in the opposite direc­tions [1],[2],[3],[4],[5] Incidence of this condition has been reported to be ap­proximately 7% of all cases of ectopia lentis without systemic abnormalities'. Several ocular malformations like megalo­cornea, persistent pupillary membrane, polycoria, cataract, glaucoma, retinal detachment, retinitis pigmentosa, retrobul­bar cyst and coloboma of the iris, lens and choroid have been reported in association with this condition [1],[2],[3],[4],[5],[6]. The purpose of the present communication is to discuss the aetiopathogenesis of this condition and to highlight the specular microscopic changes of corneal endothelium which have never been re­ported earlier. It further describes the occurrence of optic nerve hypoplasia along with myelinated nerve fibres in asso­ciation with ectopia lentis et pupillae, the features never having been documented earlier.


  Case report Top


A 32 year old female presented with a complaint of diminution of vision in both eyes since early childhood. She had visited an ophthalmologist earlier and was advised glasses but she did not use them regularly. Family history revealed that one of her younger brothers had also been using glasses. She had three daughters, one of them was prescribed glasses when she started her schooling and the youngest, seven months old, suffered from squint. There was no history of consanguinity in the family.

On examination, she was of an average build with normal intelligence. The general physical examination and systemic examination including the cardiovascular system, the central nervous system, and the musculoskeletal system were within normal limits.

Ocular examination revealed a corrected visual acuity of 6/9p in the right eye and 6/18(p) in the left eye. Retinoscopic refraction was RE : +10 D sph/+0.5 D cyl x 90 degrees and LE : +10 D sph/+2.0 D cyl x 120 degrees. The patient was subsequently fitted with semi soft contact lenses which ame­liorated her complaints. Eye balls size, shape and movements were normal. The cornea of both eyes were of normal size and shape. The anterior chamber was deep in both eyes and iridodonesis was present bilaterally. The iris surfaces were flat and without well developed crypts and clefts. The pupils were oval and displaced temporally and dilated to a size of 6-7 mm only. Pupillary dilatation revealed bilateral nasal displacement of the lenses. Biomicroscopic examination revealed normal size and shape of the lenses. The lens capsule was normal in both eyes. A few dot like lenticular opacities were seen in the left eye only. The zonules were few, elongated and disrupted and had a coagulative appearance. No lens coloboma was observed in either eye. Additionally a few strands of persistent pupillary membrane were seen in both eyes. The fundii viewed ophthalmoscopically showed optic nerve hypoplasia and myelinated nerve fibers [Figure - 3][Figure - 4]. Indi­rect ophthalmoscopy did not show any peripheral retinal degeneration.

Intraocular pressures recorded by applanation tonometry was 18 mm Hg in the right eye and 16 mm Hg in the left eye. Gonioscopy revealed normal angle structures. Transscleral indirect transillumination of the iris did not show any iris pigment epithelial defects. The results of laboratory examina­tion which included urine silver nitroprusside test for ho­mocystinuria and chest skiagram were normal. Echocardiography did not show any cardiac abnormality.

On performing specular microscopy, to study any associated corneal endothelial changes, pleomorphism of the cells was observed. The cell counts were over 2200 cells/mm' in both the eyes. Scattered areas of cellular ring formation were observed where a large round cell was surrounded by seven to eight smaller cells. The size of the smaller cell was less than the size of an average endothelial cell [Figure - 5]. In addition bright and dark cytoplasmic events were observed in the endothelial cells. No significant bright or dark intercellular events were seen. The "beaten metal" appearance of corneal endothelium, characteristic of iridocorneal endothelial syn­dromes, was absent in our case.


  Discussion Top


Ectopia lentis et pupillae is one of the manifestations of ectopia lentis with associated ocular anomalies [1]. In the patient cited above, besides ectopic lens and pupil, other ocular malformations like persistent pupillary membrane, cataract, iris dilator hypoplasia, optic nerve hypoplasia, myelinated nerve fibres and corneal endotheliopathy were also observed. To the best of our knowledge this is the maiden report of association of optic nerve hypoplasia, myelinated nerve fiber and corneal endotheliopathy with ectopia lentis et pupillae.

Pathomechanism of ectopia lentis with iris anomalies is con­troversial. Mechanical and neuroectodermal theories have been put forward in the aetiopathogenesis of this condition [l],[2],[3],[4],[5],[6],[7]. It has been said that persistent remnants of the tunica vascu­losa lentis mechanically interfere with the development of the zonule leading to lenticular ectopia [1] Mesodermal origin of ectopia lentis has been postulated by the concurrence of systemic mesodermal abnormalities as in the case of Marfan's syndrome. Neuroectodermal origin of such an abnormality has been proposed by Luebbers [7] on the basis of iris transillumina­tion defects due to maldevelopment of the pigmentary epithe­lium of the iris. According to him, absence or hypoplasia of the dilator muscle of the pupil manifesting as corectopia also suggested neuroectodermal origin of ectopia lentis associated with pupillary abnormalities.

In our patient, iris stromal hypoplasia and persistent pupillary membrane were seen which indicate mesodermal dysgenesis. Specular microscopic examination revealed constellation of endothelial cells in a ring pattern in several areas. This pattern of arrangement has been termed "annular endotheliopathy". Cytoplasmic changes indicated compromised ATP dependant enzymatic driven pump system of the endothelial cells. Endothelial abnormality further suggests mesodermal origin of the deformity. Neuroectodermal origin of the abnormality was suggested by concurrence of optic nerve hypoplasia, dilator muscle hypoplasia, myelinated retinal nerve fibres and maldevelopment of the zonule. Therefore, we are of the view that ectopia lentis et pupillae represents a combined mesoder­mal and neuroectodermal dysgenesis.

 
  References Top

1.
Duke Elder S: Normal and Abnormal Development, Congenital deformities. In System of Ophthalmology Vol 3, pt  Back to cited text no. 1
    
2.
London, Henry Kimpton, 596:710-715,1964. 2) Townes PL: Ectopia lentis et pupillae. Arch Ophthalmol 94:1126-1128, 1976.  Back to cited text no. 2
    
3.
Stenvenson RE : Ectopia lentis et pupillae. Birth defects, original article series, New York, National foundation March of Dimes, Vol 4, 173, 1971.  Back to cited text no. 3
    
4.
Franceschetti A : Ectopia lentis et pupillae congenitaals Recessives Erbleiden undihre Menifestierung druch Konsanguinitat-Klin Monatsb Augenheilka, 78:351-362, 1927.  Back to cited text no. 4
    
5.
Damianos N : Zwei Fall von Ectopia pupillae et lentis. Beitr Augenheilka, 29:48-99, 1898.  Back to cited text no. 5
    
6.
Clark C C : Ectopia lentis, a pathologic and clinical study. Arch Ophthalmol, 21:124-153, 1939.  Back to cited text no. 6
    
7.
Luebbers J A, Goldberg MF, Herbst R, et al : Itis tranisillumination and variable expression in ectopia lentis et pupillae. Am J Ophthamol, 83:647­656, 1977.  Back to cited text no. 7
    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]



 

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