|Year : 1993 | Volume
| Issue : 1 | Page : 29-32
Familial involvement in congenital fibrosis syndrome, a rare association with Myopia
Vinita Singh, Suman Sinha
Dept. of Ophthalmology, King Georges Medical College, Lucknow, India
191, Dr. Baij Nath Road, New Hyderabad, Lucknow - 226 007, U.P.
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Singh V, Sinha S. Familial involvement in congenital fibrosis syndrome, a rare association with Myopia. Indian J Ophthalmol 1993;41:29-32
The general fibrosis syndrome involving three or more extraocular muscles is a very uncommon congenital anomaly . It has been reported earlier by Brown  and Heuck . A familial occurence of this entity has been observed by Hansen  and others. Other systemic congenital defects have also been described in the affected and non affected members of the family. Even though an autosomal dominant pattern of inheritance is often present, the occurrence of this disorder may be sporadic . Isolated cases of fibrosis of the inferior rectus muscle along with ptosis of familial origin have been reported . This condition is of clinical interest by virtue of being very uncommon and in that it represents an extensive yet selective involvement of the extraocular muscles and erratic ocular movements on attempted versions.
| Case reports|| |
Three members of the same family were found to be suffering from the rare entity of congenital fibrosis syndrome. On the basis of the history other members of the family were also possibly affected by a similar disorder. The pattern of familial involvement is illustrated in [Figure - 1]. The clinical features of the three patients who were examined are being presented here. The common clinical features of the patients are shown in [Table - 1].
Case No. 1 [Figure - 2]a was a 32 year old Hindu female with history of bilateral ptosis, squint and inability to move the eyes fully since birth. She was operated for ptosis both eyes (BE) 15 years back. Her corrected visual acuity in the right eye (RE) and left eye (LE)was 6/12. Both eyes were myopic [Figure - 2]b.
On examination she had bilateral ptosis. Both eyes were hypotropic and fixed in down gaze [Figure - 3][Figure - 4]. On covering either eye the uncovered eye showed erratic movements but did not come up to midline to look straight into the fixation target. On the synoptophore there was alternate suppression and the objective angle was +30° R/L 15PD. There was marked limitation of both eyes in elevation, limitation of each eye in depression in the abducted position, down shoot of LE in dextroversion and erratic convergence movements on attempted elevation [Figure - 2]a. The fixation of BE was below and nasal to the macula. The forced duction test was positive for fibrosis of inferior rectus BE and superior oblique LE.
Case No. 2 [Figure - 5]a was 8 year old Hindu female with history of bilateral ptosis RE>LE, squint and inability to move the eyes fully since birth. Her corrected visual acuity was <6/60 in RE and 6/18 in LE. Both eyes were myopic [Figure - 5]b.
On examination she had bilateral ptosis R>L. The RE was hypotropic and the LE was exotropic [Figure - 3][Figure - 4]. On covering either eye the uncovered eye showed erratic movements but did not become straight to look at the fixation target. On the synoptophore the RE made poor attempt to fix, there were no binocular functions and the objective angle by corneal reflex was - 25° L/R 20°. The movement of RE was limited in adduction; dextro, direct and laevoelevation (RIO>RSR) and laevodepression. The movement of LE was limited in adduction, dextroelevation and dextrodepression and laevodepression. There was upshoot of LE in abduction [Figure - 5]a. There was no attempt to fix with the RE and the fixation in the LE was positive for fibrosis of RIR, RSO, RLR, LLR and LSR.
Case No. 3 [Figure - 6]a was a 6 year old Hindu male with history of ptosis and squint LE and inability to move the eyes fully since birth. The corrected visual acuity was 6/9 in the RE and 6/36 in the LE. The RE was emmetropic and the LE was myopic [Figure - 6]b.
On examination she had bilateral ptosis. The RE was straight and LE was exo and hypotropic [Figure - 3][Figure - 4]. Although there was poor attempt to fix with the LE, the horizontal as well as vertical deviation was more marked while fixing with it. There was suppression of the LE and the angle of deviation was - 20° R/L 20 PD while fixing with with RE and - 28° R/L >20 PD while fixing with the LE. There was I imitation of RE in dextrodepression and upshoot in dextroversion. The movements of LE were limited in dextroversion; dextro, direct and laevoelevation and laevodepression. There was marked downshoot of LE in dextroversion [Figure - 6]a. The fixation of BE was central although that of LE was unsteady. The forced duction test was positive for fibrosis of MR, LIR and LSO.
| Discussion|| |
This is an interesting report of a family suffering from varying degree of congenital fibrosis of extraocular muscles along with gross restriction of ocular movements and erratic asymmetric movements of the eye balls on attempted versions. This entity is of clinical interest by virtue of its rarity, inheritance pattern and in that it represents a more extensive yet selective involvement of the extraocular muscles than do other syndromes involving the structure of the extraocular muscles. The clinical features of three members of a family who were examined have been described along with the pattern of familial involvement. It is important to observe that all the three patients had myopia.
Few reports of this syndrome appear in the western literature and none in the Indian literature reviewed. The association of myopia with congenital fibrosis syndrome is probably yet to be reported.
| References|| |
Brown HW. Congenital structural muscle anomalies in Aelen, J.H. (ed) Strabismus Ophthalmic symposium II, St. Louis, C.V. Mosby Co.391, 1958.
Heuck G. Uber angeboren verboten Beweglichkeits defect der Augen, Klin Monatsbl, Augenheilk 140:373, 1962.
Hansen E. Congenital general fibrosis of the extraocular muscles. Acta Ophthalmol. 46:469, 1968.
Noorden GK von. Special forms of strabismus Burian Von Noordens Binocular vision and ocular motility, St.Louis, The C.V. Mosby Co. 379, 1980.
Noorden GK von. Congenital hereditary ptosis with inferior rectus fibrosis. Arch Ophthalmol. 83: 378, 1970.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]
[Table - 1]