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ARTICLE
Year : 1968  |  Volume : 16  |  Issue : 1  |  Page : 29-31

Congenital primary aphakia with retinal dysplasia and heart defect


Department of Ophthalmology, Jawaharlal Institute of Post-graduate Medical Education and Research, Pondicherry-6, India

Date of Web Publication22-Dec-2007

Correspondence Address:
P A Lamba
Department of Ophthalmology, Jawaharlal Institute of Post-graduate Medical Education and Research, Pondicherry-6
India
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Source of Support: None, Conflict of Interest: None


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How to cite this article:
Lamba P A, Sood N N. Congenital primary aphakia with retinal dysplasia and heart defect. Indian J Ophthalmol 1968;16:29-31

How to cite this URL:
Lamba P A, Sood N N. Congenital primary aphakia with retinal dysplasia and heart defect. Indian J Ophthalmol [serial online] 1968 [cited 2020 Feb 20];16:29-31. Available from: http://www.ijo.in/text.asp?1968/16/1/29/37490

Congenital aphakia is an extremely rare condition and still rarer is the condition of primary aphakia which is clue to a failure of its develop­ment. The picture has to be differ­entiated from secondary aphakia or pseudo aphakia which is the result of disappearance of a part or whole of the lens as a result of degenera­tion or absorption.

The first case report was by BA­KER [1] . From time to time cases have been reported clinically but have not been verified by better diagnostic procedures. Most of such cases had other serious congenital defects like microphthalmos, microcornea, iride­remia, correctopia, corneal opacities involving the whole thickness, nysta­gmus and persistant hyperplastic vit­reous.

It is still an open question whether true congenital complete absence of lens and its capsule can occur in an otherwise normal or nearly normal eye. MANN [5] thinks it possible, be­cause she accidentally discovered bila­teral aphakia in a human embryo at 13 mm stage wherein the develop­ment was relatively normal except that the only trace of the lens was a slight thickening of surface ecto­derm which never invaginated or se­parated. The condition has also been seen occurring spontaneously in animals like amblystoma embryo and. pig.

The purpose of this presentation is to report a rare case of congenital primary aphakia with other unusual congenital abnormalities like facial asymmetry, retinal aplasia and presence of congenital heart disease (Parent Ductus Arteriosus).


  Case report Top


A. U. 40 years male presented in the Ophthalmic O.P.D. of JIPMER Hospital in March, 1967 with to complaints of defective vision in the right eve since childhood and hard­ness of hearing especially from the right ear. There was no history of febrile illness in the past. There was no history of trauma or operation on the right eye.

General Physical Examination:­

Moderately nourished and poorly built, mentally he was subnormal with an I.Q. between 50-80. He show­ed an asymmetrical face because of underdevelopment of right orbit and right half of the face. E.N.T. check up showed evidence of perceptive deafness on both sides. Cardiovas­cular system examination showed evidence of enlarged heart with auscultatory findings suggestive of congenital heart defect (Patent Due­tus Arteriosus).

Ocular Examination:­

In addition to the facial asymmetry, the patient exhibited a horizontal nystagmus.

Right Eye.

The eve ball was small in size. The cornea measured 6 mm. in the vertical meridian and 8 mm. in the horizontal. It was transparent, with no vascularisation or haziness in any part. The anterior chamber was shallow. The pupil was round, small and reacted well to light. The iris showed iridodonesis. A jet black reflex was seen from the pupillary area. No part of the lens could be seen. No residual membrane was seen in the pupillary area even on slit lamp ex­amination.

Vision:- Finger counting at 6". Per­ception and projection of light was accurate from all quadrants. Refrac­tion was +20. D in the horizontal meridian and +21.0 D in the vertical meridian. Maximal visual improve­ment was 6/60 with + 19.0 D. Sph.

Fundus Examination: Media were clear. The disc was small and hyper­metropic. Blood vessels slightly at­tenuated. The whole of the retina including macula gave an appearance suggestive of abiotrophy without much of pigmentary disturbances. No ramnants of Cloquet's canal or lenti­cular material were seen during oph­thalmoscopy.

Left Eye

The cornea was smaller than normal (8 mm. diameter). It had main­tained its lustre and transparency. The anterior chamber was shallow but regular. The pupil was round and reacted weakly to light. The lens was present in the pupillary area. Unaided vision was 6/60. Re­fraction was + 13.0 D in both meridians and he improved to 6/18 with glasses (+12.0 D Sph.)

Fundus Examination: Media were clear. It was a hypermetropic fundus with evidence of retinal degeneration.

Investigations:­

Blood V.D.R.L.:- Negative.

X-Ray Skull:- was normal. No bony lesion was seen.

X-Ray Chest-Heart size was enlarged and showed signs of left ventricular hypertrophy.


  Comments Top


Many cases of congenital aphakia have been reported in the literature.

When describing such cases no com­ments have been made about pri­mary or secondary nature of aphakia. TOUFESCO [8] critically surveyed 15 reported cases of congenital aphakia till 1904. Remarkably, 13 cases show­ed ramnants of absorbed lens in mal­formed eyes with colobomata or microphthalmia. This reflects on the rarity of primary congenital aphakia. The secondary type of congenital aphakia usually follows absorption of a part or whole of the lens. The eye may be microphthalmic and pathologically is characterised by the presence of papillary membrane and persistence of tunica vasculosa lentis (WOLTER AND PETROHELOS [10] RINTELEN AND STAUFFENG­GER. [11] )

Many cases of apparently primary aphakia with and without extreme deformites of the globe have been re­ported (DUKE ELDER [2] ), but no microscopic examinations were under­taken and their true nature is diffi­cult to substantiate.

GRATIOT reported a 30 year old man with history of poor vision since birth. The patient exhibited iridodonesis, nystagmus, displacement of pupil and aphakia in both eyes.

SEZER [7] described connatal aphakia with iridodonesis and hyperopia of + 13 dioptres in otherwise normal eyes of a 12 year old girl. There were no ramnants of pupillary mem­brane or lens or lens capsule. MAN­SCHOT [6] commented that not more than 5 cases of primary aphakia have been described. He described the condition in a prematurely born female child who died soon after birth. The ocular examination showed a microphthalmia with colobomata and retinal dysplasia.

Our case differs from the earlier clinical observations of occurrence of microphthaltnos with congenital aphakia. It does show that eyes without lens can obviously develop to about their normal shape and size. Not only that; inspite of a high hypermetropia (+20 D) and retinal dysplasia, the patient may still retain some useful vision. Naturally the question of enucleation and histopa­thological study did not arise.

Our case on cardiovascular exami­nation showed evidence suggestive of patent ductus arteriosus. The only case recorded in literature showing congenital cardiac anomaly was by MANSCHOT [6] . A patent foramen ovale and ventricular septal defect was demonstrated on post mortem examination. In addition our patient showed mental retradation (I.Q. 50­80), hemifacial atrophy on the right side and preceptive deafness on both sides. Similar observations have not been recorded in literature so far.

Discussing the genesis, VOGT [9] thought that primary aphakia is pro­bably due to an aplasia or hypoplasia of the lens following some hindrance in the detachment of lens vesicle. FISHER [3] held the view that the condition is the result of anomalous invagination of the optic vesicle which interferes with the normal re­lationship between optic vesicle and surface ectoderm which is condi­tional for the development of lens vesicle and also prevents the deve­lopment of the other tissues of ante­rior segment. McKEEHAN [4] showed by experimental evidences that it is not contact between the neuro and surface ectoderm which is essential for induction of lens plate but it is primarily a chemical induction by the diffusible agents (? metabolites/ chemicals) produced by the neuroec­toderm. The present case supports the theory of chemical induction, in view of the absence of other congenital abnormalities of the anterior segment and that a maldifferentiated neuroectoderm may not be capable of producing the essential chemical agents.

It may be added that great care must be excercised in making a diag­nosis of primary absence of lens.


  Summary Top


A rare case of unilateral primary congenital aphakia has been describ­ed in an adult of 40 years. The affect­ed eye showed a micro cornea with aplasia of retina but retained a vision of 6/60 with glasses. Other unusual associated congenital abnormalities were facial asymmetry, perceptive deafness and congenital heart disease (patent ductus arteriosus). The gene­sis of the ocular condition has been discussed and is probably the result of failure of chemical induction.

 
  References Top

1.
BAKER, AV. It.: N. Y. Med. J. 46. 595 (1887) Cited by Duke Elder.  Back to cited text no. 1
    
2.
DUKE-ELDER. S.: System of Oph­thalmologv. Vol. III P. H, p. 688. C. V. Moshy London (1964).  Back to cited text no. 2
    
3.
FISHER, F.: Abnomal Ciliary-body anlage in a Mikrophthalmic Eye (German.v. Graefe. Arch. Ophthal 132, 71, (19:34).  Back to cited text no. 3
    
4.
McKEEHAN, AI. S.: Induction of Portions of the Chick lens without contact in the Optic cup. Anat. flee., 132, 297, (1958).  Back to cited text no. 4
    
5.
MANN, IDA C.: Congenital absence of the lens with special reference to an Aphakic Human Embryo. Brit. J. Ophthal. 5, 301, (1921).  Back to cited text no. 5
    
6.
MANSCHOT. W. A.: Primary Con­genital Aphakia, A.M.A. Arch. Oph­thal (Chicago) 69. 571-577, (1963).  Back to cited text no. 6
    
7.
SEZER N.: Congenital Aphakia (Turkish) Oto-Noro-Oftalmojoli (Turk) 2, 43 (1947) Ref. Klin. MN. Augenheilk 117, 428 (1950).  Back to cited text no. 7
    
8.
TOUFESCO, S.: Note on congenital aphakia (French) Ann. Oculist (Paris) 132, 107-117 (1904).  Back to cited text no. 8
    
9.
VOGT., A.: Aplasia and Hypoplasia Lentis (German) Klin. Mbl.. Augen­heilk, 87, 257 (1931).  Back to cited text no. 9
    
10.
WOLTER, J. R. AND PETROHE­LOS, M.A.: Congenital Aphakia. Amer. J. Ophthal. 49, 945-953, (1960).  Back to cited text no. 10
    
11.
RINTELEN, F. AND STAUF­FERNGER, U.: v. Graefe's Arch. Ophthal., 159, 411, (1957).  Back to cited text no. 11
    




 

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