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| ARTICLES |
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| Year : 1985 | Volume
: 33
| Issue : 3 | Page : 195-197 |
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Homocystinuria with bilateral absolute glaucoma
BR Kalra, S Ghose, NN Sood
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
Correspondence Address:
S Ghose
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi-110029
India
 Source of Support: None, Conflict of Interest: None  | Check |
PMID: 3879832 
How to cite this article:
Kalra B R, Ghose S, Sood N N. Homocystinuria with bilateral absolute glaucoma. Indian J Ophthalmol 1985;33:195-7 |
Homocystinuria was first detected as a new metabolic disorder in 1962[1],[2]. Since then many cases have been reported in the literatures[3],[4],[5],[6],[7],[8],[9],[10],[11],[12]. The association of glaucoma[10],[13],[14],[15] and even buphthalmos[10],[13],[14], is known, but there is no case of homocystinuria with glaucoma documented in Indians. The present case is a report of absolute glaucoma in both eyes with bilateral ectopia lentis in a typical case of homocystinuria.
| Case report | |  |
An 8-year-old Hindu girl was referred with complaints of sudden loss of vision in both eyes, right eye 4 months ago, followed by left eye one and a half months back. The loss of vision in each eye was preceded by an acute attack of redness and pain in the eyes and severe vomiting. She was hospitalised elsewhere for treatment of vomiting, the ocular cause not being then suspected.
The patient was a full term normal delivery, and had cried soon after birth. The developmental milestones were considerably delayed-social smile at 4 months, head holding 5 months, sitting with support 9 months and without support 10 months, standing 18 months, walking 2-1/2 years and intelligible speech at 3-1/2 years. All three brothers and other family members were apparently normal. There was no history of con sanguinity.
On general examination, the patient was poorly built with body weight 15.2 Kg., height 107.5 cms., span 112.5 cm, with a height to span ratio of 0.95: 1, and upper segment to lower segment ratio of 0.95 : 1. The pulse, respiration and blood pressure were normal. She had a high arched palate and the uvula was absent. The child was moderately retarded mentally; the exact I. Q. score was difficult to ascertain because of aphasia. Examination of the musculoskeletal system revealed pectus excavatum, and arachnodactyly, genu valgum and flat foot [Figure - 1].
The other systemic examinations were unremarkable.
The facies was characteristic of homocystinuria [Figure - 2]. Ocular assessment showed absence of perception of light in both eyes. Nystagmoid movements were present. The adnexae were normal. The eyeballs showed bilateral equatorial and circumferential ciliary staphyloma [Figure - 2][Figure - 3]. The right anterior chamber was very shallow, being absent in the central area due to anterior dislocation of the lens [Figure - 2], the anterior surface of which was touching the back of a hazy cornea. In the left eye [Figure - 3] the anterior chamber was deep and there was posterior dislocation of the lens, the latter lying in the inferonasal quadrant of the vitreous. Both lenses showed punctate cataractous changes. The iris had patches of atrophy on both sides. The pupils were round, dilated and fixed. On examination of the funds in the right eye, only a faint glow could be seen, but in the left eye the cup/disc ratio was 0.8 to 1 with pronounced pallor and obvious glaucomatous optic atrophy. The digital tension was markedly raised in both eyes.
The haemogram, routine urinalysis, and X-rays chest and skull were within normal limits. X-ray long bones revealed osteoporosis. The urinary cyanide-nitroprusside and the more specific, silver-nitroprusside tests[11], were strongly positive for homocystine. Electrocardiography and echocardiography revealed no significant heart disease. The patient was kept on oral pyridoxine and appropriate diet. The parents and siblings were examined and found to have no significant ocular, systemic or biochemical abnormality.
| Discussion | | |
The present case had systemic and biochemical features typically known in homocystinuria[1],[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12[. The association of absence of the uvula does not seem to have been reported before. Bilateral punctate cataractous changes have not been described in homocystinuria, where lamellar or nuclear cataract is usually seens[6],[16]
She developed the serious ocular complication of absolute glaucoma at a relatively early age which had led to equatorial and ciliary staphyloma in both eyes. The mechanism of pupillary block in the production of glaucoma in homocystinuria is documented earlier[13],[14],[15]. This is definitely the cause of glaucoma in the right eye of our patient, where the lens was dislocated anteriorly. In the left eye with posterior lens dislocation into the vitreous, the glaucomatous optic atrophy may be because of vascular insufficiency of the optic nerve due to minor thromboembolic phenomena[11], and partly due to secondary changes following lens dislocation into the vitreous. It is possible that in this eye also the lens had been earlier causing pupillary block glaucoma, and only later was dislocated posteriorly into the vitreous.
Bilateral equatorial and circumferential ciliary staphyloma with absolute glaucoma in association with bomocystinuria, as in this case, does not seem to have been reported before in the Indian population. The glaucoma was detected too late in the course of the disease for any ocular treatment to be beneficial in this case, as she had already lost total vision.
| Summary | | |
A case of homocystinuria with typical systemic features and bilateral ectopia lentis in an 8-year-old Indian girl is presented, who lost vision in both eyes due to absolute glaucoma following bilateral dislocation of lenses.
There was equatorial and circumferential ciliary staphyloma in both eyes. Specific biochemical tests confirmed the diagnosis of homocystinuria. The aetiopathogensis of glaucoma in this case is discussed. The importance of early detection of ocular complications in homocystinuria is stressed.
| References | | |
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| 16. | Gerritsen, T,, and Waisman, H. A., 1964, Pediatrics, 33 : 413. |
[Figure - 1], [Figure - 2], [Figure - 3]
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