Year : 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
S D Gupte
Department of Ophthalmology post Graduate Institute of Medical education & Research, Chandigarh
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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
Available from: https://www.ijo.in/text.asp?1971/19/2/49/34993
Homocystine is an aminoacid which was described for the first time by Carson and Neill. 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).
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 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.
|1||CARSON, 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.|
|2||PRESLEY. G. B. and SIDBURY, J. B. Homocystinuria and Ocular Defects, Amer, J. Ophth 63, 1723, 1967.|