Indian Journal of Ophthalmology

CASE REPORT
Year
: 1990  |  Volume : 38  |  Issue : 4  |  Page : 200--201

Kearns-Sayre syndrome-A case report


Gulbir Singh Rekhi 
 Department of Ophthalmology, S.M.S. Hospital, Jaipur, India

Correspondence Address:
Gulbir Singh Rekhi
A-201. Malviya Nagar, Jaipur - 302 017 Rajasthan
India

Abstract

A case of Kearns - Sayre Syndrome characterized by a triad of external ophthalmoplegia, retinal dystrophy and cardiomyopathy is discussed. Ocular examination and cardiologic screening of family members is requested.



How to cite this article:
Rekhi GS. Kearns-Sayre syndrome-A case report.Indian J Ophthalmol 1990;38:200-201


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Rekhi GS. Kearns-Sayre syndrome-A case report. Indian J Ophthalmol [serial online] 1990 [cited 2024 Feb 21 ];38:200-201
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Full Text

 INTRODUCTION



The association of ophthalmoplegia with retinal degeneration was first suggested by Barnad & Scholz in 1944. There have been various hypotheses regarding the etiology of ophthalmoplegia, [2][3][4][5][6] including possible nuclear ophthalmoplegia and ocular myopathy (Kiloh�Nevin). [7] Kearns & Sayre [8] reported this syndrome as�sociated with heart block in two patients in 1958. We are reporting a case of external ophthalmoplegia and retinitis pigmentosa alongwith right bundle branch block.

 CASE REPORT



A twenty year old male was seen with the complaint of progresssive drooping of the right upper lid. His past history revealed that the ptosis in the right eye has been present since childhood. The patient also had difficulty while seeing at night since the last 2-3 years, and of late he has been finding it difficult to adjust from dim to bright illumination and has been bumping into and stumbling over objects while doing routine work. The patient also gave history of dyspnoea on exertion since the last 2-3 years. Patient's grand-father had ptosis, one of the patient's brothers had retinitis pigmentosa.

OCULAR EXAMINATION

OD : Severe ptosis with marked limitation of elevation and depression and mild limitation of abduction was present. Corneal sensation was uniformly present. Bell's and Marcus-Gunn phenomenon were absent. Pupillary reaction, both direct and consensual were present & brisk. Slit lamp examination revealed no ab�normality. Visual acuity was 6/9, N6 Tension was 17.3 mm. Hg Schiotz OU.

Fundus showed a waxy pale disc with marked attenua�tion of arterioles and pigment clumps at the periphery.

OS : - No ptosis, full range of ocular movements in all positions of gaze, the anterior segment was normal. Slit lamp examination revealed no abnormality Visual acuity was - 6/9, N6.

Fundus showed away pale disc with marked attenuation of arterioles. Peripheral fields OU : showed irregular concentric constriction down to radius of 30 o.

SYSTEMIC EXAMINATION

CVS examination revealed a right bundle branch block (ECG)

Pulse rate - 101/minute, rhythm - sinus, regular, Axis�Right. P wave-Normal PR interval -0.12 Sec. ORS com�plex-0.12 Sec. T wave-Inversion in II, III, aVF, V2 & V2, RSR in II, aVF,V 1 V 2 . Persistence of S wave in V 6 .

Other systems - normal

INVESTIGATIONS

Routine haemogram was normal, skull X-ray showed no abnormality.

SUMMARY:

The syndrome is characterized by a triad of; progressive external onhthalmoplegia, there being ptosis; retinal dystrophy and cardiomyopathy.

The ocular course is relatively benign, the majority of patients have normal or mildly reduced visual acuity (Gabriele. E. Lang and Irene H. Maumenee) [9]. Specific ocular treatment is not available. The cardiomyopathy is often severe & accompanied by progressive chronic heart block and can be treated by a pacemaker. Cardiac examination is therefore important and should be in�itiated by the ophthalmologist. Family members should also be examined for the same reason. [10]

References

1Barnard, R.I. and Scholz. R.O : Ophthalmoplegia and Retinal Degenera�tion. Am. J. Ophth. 1944, 27:621.
2Alfano, J. E., and Berger, J.P.: Retinitis Pigmentosa. ophthalmoplegia and Spastic Quadriplegia. Am.J. Ophth.. 1957. 43:231-240.
3Erdbrink. W.L.: Ocular myopathy associated with Retinitis Pigmentosa. A.M.A. Arch. Ophth. 1957, 57:335-338.
4Saudifer. P.H. : Chr.Progressive Ophthalmoplegia of Myopathic Origin. J. Neurol. Neurosurg and Psychiat. 1946. 9:81-83.
5Cogan, D.G. : Symposium. : Primary Chorioretinal Aberrations with night blindness; Pathology, Tr. Am. Acad. Ophth. 1950. 629-661 (July-August).
6Cogan D. G.: Neurology of the ocular Muscles. Ed.2. Springfield Ill. Charles C. Thomas Publisher, 1956.
7Kiloh. L.G. and Nevin S.: Progressive dystrophy of the external ocular muscles (Ocular myopathy), Brain. 1951. 74:115.
8Kearns. T.P. and Sayre, G.P.:Retinitis Pigmentosa, External ophthal�moplegia and complete Heart Block, Arch. Ophthal.. 1958. 60:280.
9Gabriele E. Lang and Irene H. Maumenee. Retinal dystrophies associated with storage diseases in : Retinal dystrophies and degenertions, Ed. David A. Newsome Raven Press. New York, First Edition : 1988, pp. 328-29.
10Leveille. A.S.. and Newell F.W. Autosomal dominant Kearns-Sayre Syndrome. Ophthalmology. 1980, 87:99-108.