Year : 1970 | Volume
: 18 | Issue : 2 | Page : 86--88
Congenital unilateral pigmentary retinal degeneration with myasthenia gravis
SA Gokhale, RP Dhanda
Institute of Ophthalmology, Civil Hospital, Ahmedabad, (Guj.), India
S A Gokhale
Institute of Ophthalmology, Civil Hospital, Ahmedabad, (Guj.)
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Gokhale S A, Dhanda R P. Congenital unilateral pigmentary retinal degeneration with myasthenia gravis.Indian J Ophthalmol 1970;18:86-88
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Gokhale S A, Dhanda R P. Congenital unilateral pigmentary retinal degeneration with myasthenia gravis. Indian J Ophthalmol [serial online] 1970 [cited 2020 Feb 19 ];18:86-88
Available from: http://www.ijo.in/text.asp?1970/18/2/86/35070
Tapeto-retinal degeneration in its typical and a typical forms has been reported to be associated with a number of other anomalies which include Glaucoma, Myopia, deafness, diencephalic anomalies etc., Barnard and Schloz  , Chamblin and Billet . Walsh  and others have reported occurrence of progressive external ophthalmoplegia along with Tapeto-retinal degeneration which may be atypical in its findings. Blood vessels of the fundus, the optic discs and the visual fields may show no gross defects. Its association with myotonic dystrophy has been described by Bajaj  and others. Occurrence of unilateral pigmentary retinal degeneration has been reported by Kolb and Galloway  and others.
Paul, Malhotra and Markand  have reported probably the only case having Myasthenia Gravis and Tapetoretinal degeneration together as no other report of the kind could be traced. No cause could be put forward for the occurrence together of the two quite uncommon diseases.
Here we came across a case of Unilateral Tapeto-retinal degeneration with Myasthenia Gravis. Since there is a report of a similar combination by Paul et al  and since the aetiology of the two uncommon diseases is not known, the case is reported to draw the attention for a possible explanation for such an association.
A male aged 58 years came with a complaint of drooping of right upper lid since two months. It was of gradual onset and was more marked in the evenings. He had right-sided head. ache a month before and was diagnosed as due to maxillary sinusitis and treated by antral puncture. Left eye was blind since birth. There was nothing significant in family history.
Visual acuity 6/12p improving to 6/6p with glasses. The upper lid was drooping and covering the cornea about 4-5 mm. Levator action was hardly 1 mm. and there was a tendency to increased drooping and decreased levator action towards evenings. Superior rectus showed almost complete paralysis and the action of inferior oblique was also relatively less. Examination of the globe proper did not reveal any abnormality. There was a compensatory overaction of the frontalis. [Figure 1],[Figure 2],[Figure 3]
Vision was only perception of light with projection only in the temporal quadrant and had poor fixation. It went up and out when the right eye was fixing. Left upper lid and frontalis showed an overaction at times.
Left eye cornea was smaller than the right, the diameter being 9 mm vertical and 9.5 mm horizontal as compared to 10 mm vertical and 11 mm. horizontal. Pupil was sluggishly reacting to direct light, but well reacting to consensual light. There were peripheral and central lens opacities but the fundus details were visible. There were no opacities in the vitreous.
The disc showed a mild waxy pallor and clear margin. The vessels were attenuated. The fundus had a markedly tesselated appearance. There were superficial patches of pigment of varying sizes and shapes scattered between the disc and mid-periphery, covering the retinal vessels at places. There was a white band superficial to the choroidal vessels in the upper nasal quadrant, starting a disc diameter away from the disc in a patch of pigmentation and tapering slowly towards the extreme periphery. The foveal reflex was absent, and pigment patches were involving the macular area also.
The slit lamp examination of the left eye revealed remnants of persistent pupillary membrane and posterior capsular lens opacities. The retinoscopy of the two eyes was [Figure 6]
1) Blood Kahn test - negative
2) Haemogram - normal
3) Post-prandial blood sugar - 113 mg.%
4) Urine-Albumin - trace Sugar - nil Microscopic - normal
5) Screening chest - normal
6) X ray skull - normal
7) X ray for Thymus - no soft tissue shadow.
8) Response to Prostigmine - Markedly positive. The ptosis gets corrected. [Figure 4],[Figure 5]
The superior rectus paralysis improves.
The retraction of other lid vanishes.
The patient feels more active in general.
Discussion and Comments
The findings of the right eye with special reference to the response to prostigmine suggest Myasthenia Gravis. Those in the left eye with the loss of vision existing since birth suggest an atypical unilateral pigmentary retinal degeneration with anterior microphthalmos.
The case of Paul  et al also had atypical features. Their patient was a young boy with bilateral involvement by both diseases with a patch of choroiditis in the right eye; the muscle biopsy showed changes of dystrophy and clinically some wasting of muscles was seen. The disc did not show the waxy pallor though the vision and fields had deteriorated.
Our case, so far as Myasthenia Gravis is concerned, is in its early stages for only ocular involvement has occurred and so we cannot say whether it also might develop some dystrophic changes in muscles. These do not occur in Myasthenia Gravis. Though response to Prostigmine is elicited in muscular dystrophies, it is never as marked as it was in either our case or Paul  et al's case.
Not much can be commented about the nature of this association. It may be that it is just a coincidence or that there does exist a commonness in the two diseases. The atypical nature of the diseases in both the cases makes us presume that this combination is probably a separate entity of its own, It is practically impossible to venture upon the aetiology of the disease, with the present state of our knowledge.
An anusual case of Myasthenia Gravis associated with unilateral atypical pigmentary degeneration of retina is reported.
|1||Barnard, R. I. and Scholz, R. O.: Ophthalmoplegia and retinal degeneration. Am. J. Ophth. 27, 621-624, (1944).|
|2||Bajaj, N. L.: Myotonia atrophica with Retinitis pigmentosa. J. Indian med. Ass. 43, 134, (1964).|
|3||Chamblin, M. and Billet, E.: Ophthalmoplegia and Pigmentary degeneration of the retina. Arch. Ophth. 43, 217-223, (1950).|
|4||Kolb Helga and Galloway, N. R.: Three cases of Unilateral Pigmentary degeneration. Brit. J. Ophthal., 48, 471; (1964). |
|5||Paul, S. D., Malhotra, G. S. and Markand, O. N.: Myasthenia Gravis associated with Tapetoretinal degeneration. Oriental Arch. Ophth. 4, 248-252 (Sep. tember 1966).|
|6||Walsh, F. B.: Clinical Neuro-ophthalmology (2nd edition) pp. 648. Williams and Wilkins Co. Baltimore (1957).|