Indian Journal of Ophthalmology

: 1971  |  Volume : 19  |  Issue : 2  |  Page : 49--51

Acquired cataract in homocystinuria

SD Gupte, IS Jain, Juginder Kumar 
 Department of Ophthalmology post Graduate Institute of Medical education & Research, Chandigarh, India

Correspondence Address:
S D Gupte
Department of Ophthalmology post Graduate Institute of Medical education & Research, Chandigarh

How to cite this article:
Gupte S D, Jain I S, Kumar J. Acquired cataract in homocystinuria.Indian J Ophthalmol 1971;19:49-51

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Gupte S D, Jain I S, Kumar J. Acquired cataract in homocystinuria. Indian J Ophthalmol [serial online] 1971 [cited 2021 Jun 16 ];19:49-51
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Homocystine is an aminoacid which was described for the first time by Carson and Neill[1]. Homocystinuria is a condition cha­racterized by the presence of Homo­cystine in the urine. The basic defect is probably a deficiency in the enzyme cystathionine synthetase which is res­ponsible for converting the essential sulphur-containing arninoacid, meth­ionine, into cystein and its end­products. The disease is transmitted as an autosomal recessive trait. Syste­mically there are a number of features which may be seen, namely fair hair and a fair complexion, mental retarda­tion erythematous patches on the skin, spastic gait, cardiovascular ano­malies, fatty liver and sometimes there are characteristic signs of Marfan's syndrome.

In the eye the most commonly described lesions are ectopia lentis and congenital cataract. Other ocular defects which have been re­corded are spherophakia, aniridia, retinal cysts, retinal detachment and optic atrophy (Presley and Sidbury[2]).

 Case Reports

Case No. 1.

K. C., a 20 year male presented to the Eye O.P.D. with the com­plaints of progressive, painless dimi­nution of vision in both the eyes. In the right eye it started dimini­shing gradually one year back and in the left eye 8 months ago Prior to this, the vision was normal. There was no history of injury or pain and redness in the eyes. No history sugges­tive of diabetes was obtained. He had discharging ears for the last 4-5 months, Physical examination reve­aled that the patient was moder­ately built and poorly nourished. His height v. as 5 feet and 4 1/2 inches and span was 5 feet and 6 3/4 inches. There was no erythematous patch on the skin and no evidence of mental retardation. The respir­atory and cardiovascular systems did not reveal any abnormality. The liver was enlarged by 1 cm and was firm, non tender having smooth sur­face. The spleen was not palpable.

Ocular examination revealed an indentical picture in the two eyes. All the four puncta were absent. There was a mature cortical cata­ract in both eyes. No subluxation of the lens could be seen and there was no iridodonesis. The anterior chamber was not showing any irre­gular depth. The intraocular pres­sure in both eyes was 15 mm Hg. (Schiotz) His Hb. was 12.8 gm. %, ESR 14 mm, total leucocytes 12,000/ cmm. Differential count : Polys. 66%, lymphos 24%, monocytes 2% and Eosinophils 8%. Urine examination showed no albumin but there was sugar in traces. Fasting and post parendial blood sugars were 80 mg and 90 mg. % respectively. Serum calcium was 10.6 mgm and Phosphorous 3.6 mgm %,. X-rays of the hands, feet and chest were non contributory. Urine examination for Homocystinuria was strongly positive Twenty four hour urine sample also showed mainly Homocystinuria. pH of the urine was 8.6. Twentyfour hour excretion of calcium was 110 mgm, Phosph­orous 105.0 mgm, Urea 11.2 mgm and creatine 160 mgm.

Extra capsular cataract extrac­tion was done in the Left Eye on 29-10-70. Post operative course was uneventful.

Case No. II.

R.S., a 30 year male presented to the Eye O. P. D. with the comp­laints of diminution of vision in the right eye for 1 year and left eye for 10 months. It had been grad­ually deteriorating. There was no history of trauma or redness and pain in the eyes. No history sug­gestive of diabetes could be obtained. Six years back he had jaundice which remained for 15 days. A year back he had discharge from both ears. Nothing relevant was obtained in the family history.

General physical examination showed a thin built and poorly nourished patient. The skin was normal and there was no malar flush. The height of the patient was 5 feet and 9 inches and span was 5 feet and 101 inches. There was no evidence of mental deficiency.

Examination of cardiovascular, res­piratory system and abdomen were normal.

Ocular examination revealed a bilateral, almost mature cataracts. The tension in both the eyes was 14 mm. Hg. schietz. No other ab­normality was detected in the an­terior segment.

The investigations revealed Hb. 118 gm. %, total and differential counts and ESR were normal. There was no sugar and albumin in the urine. The fasting and post pren­dial blood sugar was 70 mgm % and 80 mgm% respectively. X-ray chest, hands and feet were normal. Urine examination for Homocystin­uria was strongly positive i. e. above 150 mgm / 24 hours. Twentyfour hour specimen of urine showed mainly homocystinuria. The excre­tion per 24 hour in the urine of calcium was 112mgm, Phosphorous 205 mgm, Urea 11.8 mgm, and Crea­tine 152 mgm.

Extra capsular extraction was done in the Left Eye on 22-9-1970. The post operative course was uneventful. On 10-12-1970, the vision recorded was 6/9 with the help of + 11.00 D. Sph. Fundus examination did not reveal any abnormality.


Homocystinuria is a rare con­dition. Only a few reports regarding the ocular manifestation in this dis­ease are available. The most com­mon lesions described are ectopia lentis and congenital cataract.

Presley and Sidbury[2] reviewed 10 cases of Homocystinuria and des­cribed various lesions shown in the table :­

Lesions - Number of cases

Ectopia Lentis - 6

Congential Cataract - 6

Spherophakia - 2

Aniridia - 1

Optic atrophy - 3

Retinal detachment - 1

Retinal Cyst - 1

On scanning the literature we could not find a single reported case of acquired cataract in homocystinuria. In many cases of congenital or juvenile cataract of undetermined etiology, Homocystinuria may be playing a role in its production as usually it is not looked for. In these two cases, the cataract was fairly rapid in its development and the patients were too young for senile cataracts. No other ocular or sys­temic cause, which may be respon­sible for cataract could be found. The presence of a strongly positive reaction for Homocystine in the urine and absence of any other dete­ctable cause suggests that homocys­tinuria is responstble for the pro­duction of cataract.

Both the cases were operated for cataract and an extracapsular cataract extraction was done. The post operative course was uncom­plicated and no thrombo embolic phenomenon was seen. Case No. I showed mild glycosuria without hyperglycaemia possibly due to renal tubular defect, which, though could not be proved in this case, but may be present in this disease. Absence of all the four puncta was an add­itional congenital anomaly in this case. In both cases the span was more than the height, a finding usually seen in Marfan's syndrome but has also been described in cases of Homocystinuria. The history of discharging ears in both the patients may be significant although difficult to correlate with Homocysti­nuria.


Two unusual cases of acquired cataract in Homocystinuria are be­ing reported. To the best of our knowledge, these are the first two cases of acquired cataract in Homo­cystinuria to be recorded in the literature.


1CARSON, N. A. J. and NEILL D. W. Metabolic abnormalities ditected in a survey of mentally backward individ­uals in Northern Ireland Arch. Dis. Child 37, 505, 1962.
2PRESLEY. G. B. and SIDBURY, J. B. Homocystinuria and Ocular Defects, Amer, J. Ophth 63, 1723, 1967.