|Year : 1990 | Volume
| Issue : 4 | Page : 200-201
Kearns-Sayre syndrome-A case report
Gulbir Singh Rekhi
Department of Ophthalmology, S.M.S. Hospital, Jaipur, India
Gulbir Singh Rekhi
A-201. Malviya Nagar, Jaipur - 302 017 Rajasthan
Source of Support: None, Conflict of Interest: None
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;38:200-1
| 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,  including possible nuclear ophthalmoplegia and ocular myopathy (KilohNevin).  Kearns & Sayre  reported this syndrome associated 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.
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 abnormality. Visual acuity was 6/9, N6 Tension was 17.3 mm. Hg Schiotz OU.
Fundus showed a waxy pale disc with marked attenuation 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.
CVS examination revealed a right bundle branch block (ECG)
Pulse rate - 101/minute, rhythm - sinus, regular, AxisRight. P wave-Normal PR interval -0.12 Sec. ORS complex-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
Routine haemogram was normal, skull X-ray showed no abnormality.
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) . 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 initiated by the ophthalmologist. Family members should also be examined for the same reason. 
| References|| |
Barnard, R.I. and Scholz. R.O : Ophthalmoplegia and Retinal Degeneration. Am. J. Ophth. 1944, 27:621.
Alfano, J. E., and Berger, J.P.: Retinitis Pigmentosa. ophthalmoplegia and Spastic Quadriplegia. Am.J. Ophth.. 1957. 43:231-240.
Erdbrink. W.L.: Ocular myopathy associated with Retinitis Pigmentosa. A.M.A. Arch. Ophth. 1957, 57:335-338.
Saudifer. P.H. : Chr.Progressive Ophthalmoplegia of Myopathic Origin. J. Neurol. Neurosurg and Psychiat. 1946. 9:81-83.
Cogan, D.G. : Symposium. : Primary Chorioretinal Aberrations with night blindness; Pathology, Tr. Am. Acad. Ophth. 1950. 629-661 (July-August).
Cogan D. G.: Neurology of the ocular Muscles. Ed.2. Springfield Ill. Charles C. Thomas Publisher, 1956.
Kiloh. L.G. and Nevin S.: Progressive dystrophy of the external ocular muscles (Ocular myopathy), Brain. 1951. 74:115.
Kearns. T.P. and Sayre, G.P.:Retinitis Pigmentosa, External ophthalmoplegia and complete Heart Block, Arch. Ophthal.. 1958. 60:280.
Gabriele 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.
Leveille. A.S.. and Newell F.W. Autosomal dominant Kearns-Sayre Syndrome. Ophthalmology. 1980, 87:99-108.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]