|Year : 1968 | Volume
| Issue : 3 | Page : 157-159
Marfan syndrome in a family
SP Mathur, RL Agarwal, SS Bhasin
Department of Ophthalmology, R. N. T. Medical College and General Hospital, Udaipur, India
|Date of Web Publication||24-Dec-2007|
S P Mathur
Department of Ophthalmology, R. N. T. Medical College and General Hospital, Udaipur
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Mathur S P, Agarwal R L, Bhasin S S. Marfan syndrome in a family. Indian J Ophthalmol 1968;16:157-9
It is a rare heredo-familial developmental defect of mesoderm and ectoderm, which is manifested mostly in males. Clinically it involves the skeletal system - the cardio-vascular system - and the central nervous system. In the eye, more than 50 per cent of cases manifest typical bilateral, symmetrical subluxation or dislocation of lens which may be small globular and colobomatous. Ectopia lentis is an essential sign, with deep anterior chamber, iridodonesis, small and sluggish pupil, and high refractive errors.
We wish to put on record two very typical cases of this syndrome in the same family.
| CASE NO. 1|| |
S. M. a Mohammedan male of 30 years, was admitted to the General Hospital, Udaipur, on 17-7-67, with history of gradual diminution of vision right eye 5 years and left eye 1 year with an history palpitation for the last 1 year.
The patient's father and mother had died 7 years ago. He had three brothers and one sister. Two elder brothers are dead. The eldest died 4 years ago after a short- illness with shooting pain in back. He was tall and thin similar to the patient. The second brother died 3 months ago after a prolonged illness. He was short statured. The third and fourth brothers are reported here. The sister who is youngest, is also tall and thin, but has no ocular manifestations.
General Examination: The patient was tall, devoid of sub-cutaneous fat, with long flat face and limbs [Figure - 1]. Height 5' - 10"; span of out-stretched hands 6'-2"; distance from pubic symphysis to vertex 34", and pubic 9.4 (normal 8) [Figure - 2]. Dolichoce9.4 (normal 8) [Figure - 2]. Dolicocephaly was present. The palate was highly arched. Pulse was 82 per minute, regular and water hammer type. Apex beat was visible in the 5th left intercostal space, ½" medial to mid-clavicular line. One auscultation there was accentuation of Al. Blood pressure 140/80. There was no anaemia, no cyanosis, and no lymphatic enlargement.
Examination of both eyes: revealed deep and irregular anterior chambers, small and sluggish pupils, which dilated poorly with atropin. The lenses were shifted upwards and later ally symmetrically in both the eyes and showed central opacity. The inner and lower parts of the pupils were aphakic. Fundus and intraocular tension were normal. Vision was finger counting at 2 meters with glasses in both eyes.
Laboratory investigation of blood, urine, stool did not reveal any abnormality.
Lens extraction was done in both the eyes, after complete upper iridectomy. The lenses were removed with the help of a wire vectis.
The post operative recovery was uneventful. The patient was discharged with 6/18 vision in both the eyes after correction with glasses.
Both lenses showed coloboma at the lower and inner quadrant. The opacity was most marked near the coloboma. On 15-4-68, the patient attended one of us (R.L.A.) at Mahatma Gandhi Hospital, jodhpur, for sudden defect in vision in the lower field for the last 10 days of the right eye.
Examination revealed detachment of retina in the upper and outer quarant not involing the macula. The tension was 102 mm. Schiotz. Vision was 6/18 with glasses. Surgery did not improve the condition.
| CASE NO. 2|| |
Z.A. 2 Mohammadan male 28 years of age, younger brother of the case 1, complained of diminished vision for the last 20 years. He was using glasses for about 18 years.
General Examination: He was tall, thin with poor distribution of sub-cutaneous fat having a flat face. Dolichocephaly and arachnodactly were present. Height 5' - 11½"; span of our-stretched hands 6'-5". Distance between pubic symphysis to vertex 32½", and pubic symphysis to heel 39". Digital index was 9.4. Pulse was 80 per minute, regular, water hammer type. Apex beat was visible in the 5th left inter-costal space about ½" medial to mid-clavicular line. Blood pressure was 135/80. There was aortic regurgitation.
Examination of both eyes revealed deep and irregular anterior chambers. The pupil was small and sluggish. It dilated poorly with atropin. The lens was shifted upwards and outwards in both the eyes. Media and fundi were normal. Vision in both eyes was 5/60 without and 6/24 with glasses. Tension was normal.
Laboratory investigation of blood, urine and stool were normal.
No treatment was advised.
| Comments|| |
Both the cases belong to the same family supporting the view that the disease is hereditary in nature. History of consanguinity was present. The clinical findings, confirm a poor development of ectoderm and mesoderm. There was poor subcutaneous fat, long expressionless face, arachnodactily, high digital index, reverse ratio between height and arm span, and distance between pubic symphysis to vertex in relation to pubic symphysis to heel. The eyes showed typical signs of deep anterior chamber, irridodonesis, small and sluggish pupils with poor response to atropin. The lens showed bilateral symmetrical subluxation with poor visual acuity. Aortic regurgitation was present in both cases.
As regards treatment in these cases it will depend upon the acuity of vision. If it is markedly reduced due to subluxation with or without cataract, the only choice is cataract extraction. But the prognosis is poor due to generalised developmental anomalies. The first case developed detachment of retina after cataract extraction which did not respond to surgery.
[Figure - 1], [Figure - 2]