|Year : 1968 | Volume
| Issue : 3 | Page : 154-156
Chandi Das, K Misra
Burla Medical College and Hospital, Sambalpur, Orissa, India
|Date of Web Publication||24-Dec-2007|
Burla Medical College and Hospital, Sambalpur, Orissa
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Das C, Misra K. Marfan's syndrome. Indian J Ophthalmol 1968;16:154-6
Marfan's Syndrome also known as Dystrophia Mesodermalis Congenita Hypoplastica; Dolicho Stenomelia, was first described by Marfan in 1896 and Achard in 1902. The Syndrome primarily consists of ocular malformations (mainly subluxation of lens) and maldevelopment of the embryonic mesoblast (i.e. bone, muscles, adipose tissue, cementing substances and elastic tissue). The subluxation of lens is probably caused by dysplasia of ciliary body which being under developed cannot pull the lens, fragility of the zonule, defective closure of the foetal fissure, or by the vasotrophic disturbance of the vascularcapsule. The stroma of the ciliary body and tunica vasculosa lentis being of mesodermal origin have their influence on the maldevelopment of the lens and zonule even though they are derived from the ectoderm.
| Case report|| |
R. M. T. aged 1.5 years, Christian, admitted to the female eye Ward of Burla Medical College Hospital, on 8-8-67 with the following complaints.
i) Gradually increasing dim vision in both eyes since 7 to 8 years.
ii) Periodic attacks of pains in most of the joints of the body since one year.
Family History: Unmarried, two brothers and four sisters, the patient being the eldest. The third sister has got dim vision since birth. No history of any mentionable eye disease in parents and their ancestors.
General: (Plate I).
The patient looks older compared to her age. The skin looks yellowish pale.
Span :- 70"
Weight:- 91 lbs
The patient is unusually thin and tall, and also the tallest in her family.
Head:- Dolichocephalic, the cephalic index being 60 per cent.
Face is thin, small and oblong with a high arched palate
Eye:- (Plate 2)
The lens is subluxated symmetrically inward in both the eyes.
Both the lenses look small and globular. The zonule is missing in the subluxated part.
The pupils are of normal size and respond well to mydriatics.
The fundi in both the eyes are highly tasselated showing marked choroidal atrophy.
Vision is limited to counting fingers up to three meters in both eyes.
Intraocular tension in both eyes is 15 mm of Hg.
Thorax:- Very narrow and barrel shaped.
Mammary glands are very small; and under-developed.
Unusually long being 31". The long bones are thin and elongated. The joints are very lax and flexible.
Arachynodactyly present. The Little finger shows articular contracture.
Inferior extremity:- Quite long and thin, the length being 39.5". Foot shows pes cavus. The calcaneum is quite prominently projected backwards.
Adipose Tissue: Subcutaneous fat throughout the whole body is markedly deficient.
Muscle Tissue:- The muscular growth is very poor giving the patient a skin and bone appearance.
All the three sisters show heterochromia iridis.
The mother and all the children show choroidal sclerosis of different degrees. The third sister is having poor vision with nystagmus since birth.
| Discussion|| |
A family showing different congential ocular abnormalities in its different members has been observed of . which Marfan's Syndrome proper occured in the eldest daughter. Peculiarly enough the female members of the family have only been affected. The association of choroidal sclerosis in most of the members of the family proves a dominant inheritance, either due to lack of expression or of penetrance, the main source could not be traced upwards. Also choroidal sclerosis may be just an early aborted form of what would have been Marfan's Syndrome. All the three sisters had heterochromia of iris.
This patient did not show any congential heart defect. But there is definite involvement of the joints of rheumatic nature, and attack of rheumatic cardiopathy cannot be ruled out in future. At present the X'ray of the chest and the E.C.G. do not reveal any abnormality.
Thirdly the secondary sex characters of the patient are very poorly developed which may be due to lack of adipose tissue.
| Summary|| |
A family showing different congential ocular abnormalities with one having Marfan's Syndrome is presented. All the affected members were females.
| Acknowledgement|| |
Our thanks are due to Dr. N. Mohanty for his help in photography.
| References|| |
FRANCESCHETTI AND KLEIN, D. Genetics and Ophthalmology Vol. 1, P. 958, 1961.
FRANCOIS JULES: Heredity in Ophthalmology P. 669, 1961.
MONTAGU M. F. A. An Introduction to Anthropology P. 444, 1951.
[Figure - 1], [Figure - 2]