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Case Report

KearnsSayre syndrome: An unusual ophthalmic presentation

Syed S. Ahmad, Shuaibah A. Ghani
Department of Ophthalmology, Queen Elizabeth Hospital, Kota Kinabalu, 88586 Malaysia

KearnsSayre syndrome (KSS) belongs to the group

of neuromuscular disorders known as mitochondrial
encephalomyopathies. It has characteristic syndromal
features, which include: chronic progressive external
ophthalmoplegia, bilateral atypical pigmentary
retinopathy, and cardiac conduction abnormalities. So
far, only a single case has been reported where a patient

Introduction
Kearns Sayre Syndrome (KSS) belongs to the group of
neuromuscular
disorders
known
as
mitochondrial
encephalomyopathies. It has characteristic syndromal features
which include: Chronic progressive external ophthalmoplegia
(CPEO), bilateral atypical pigmentary retinopathy and cardiac
conduction abnormalities. So far, only a single case has been
reported where a patient with KSS had a normal retina. Herein,
we report this extremely rare variant of KSS, which not only
presented later than the normal age of presentation, but also had
minimal pigmentary retinopathy.

Case Report
A 61-year-old female of Chinese descent first reported in the eye
clinic of our hospital almost 10 years back. She had complained of
progressively increasing ptosis and limitation of ocular movements
in both eyes. During those visits, her retinal examination had
shown a few depigmented spots near the superior arcade in the
right eye and a single spot in the inferior periphery in the left eye.
Over the years the patient had come for regular follow up and the
spots were consistently noted by different examiners.
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with KSS had a normal retina. Herein, we report this

extremely rare variant of KSS, which not only presented
later than the normal age of presentation, but also had
minimal pigmentary retinopathy.
Keywords: Atypical pigmentary retinopathy, Kearns
Sayre syndrome, ptosis, red ragged fibers

However, on a recent review in our clinic, she was found to have

the following findings: her best corrected visual acuities were
20/40(OD) and 20/70(OS). She had severe bilateral ptosis and
extraocular movements were severely restricted in all directions
of gaze [Figure 1]. Both direct and consensual pupillary reactions
were briskly present. Examination of anterior segments showed
nuclear sclerosis in both eyes. However, the fundus examination
was remarkable in its findings. The right eye showed a
hypopigmented patch with central hyperpigmentation below the
inferior arcade [Figure 2]. The left eye had no significant retinal
findings [Figure 3]. The hypopigmented spots, which had been
noted previously, were not seen at this time.
The patient underwent a cardiac assessment, which revealed a
first-degree atrioventricular block. Her blood sugar was elevated
and an endocrine referral was made. She was subsequently started
on oral hypoglycemic agents by the endocrinologist. The patient
had difficulty in hearing and an otorhinology consultation has
been done. A neurologic consultation was also done to rule out
any other neurologic conditions like myasthenia gravis. Apart
from the raised blood sugar the hematological workup did not
reveal any other abnormality. Antiacetylcholine antibodies were
also negative. A muscle biopsy of the orbicularis muscle was
performed. Modified Gomori trichrome staining revealed the
presence of ragged red fibers in the muscle specimen. These
findings confirmed the diagnosis of KSS in this patient.

Discussion
KSS is a disorder caused by mitochondrial dysfunction. The first
human disease attributed to mitochondrial dysfunction was Luft

Copyright: 2012 Ahmad SS and Ghani SA. This is an open-access article distributed under the terms of the Creative Commons Attribution License,
which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Correspondence:
Dr. Syed Shoeb Ahmad, Department of Ophthalmology, Queen Elizabeth Hospital, Kota Kinabalu, 88586 Malaysia. E-mail: syedshoebahmad@yahoo.com

Oman Journal of Ophthalmology, Vol. 5, No. 2, 2012

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Ahmad and Ghani: An unusual ophthalmic presentation of Kearns Sayre syndrome

under the light microscope as ragged red fibers (RRFs). KSS has
been attributed to point mutations and large-scale deletions in
mitochondrial deoxyribonucleic acid (mtDNA). Recently, some of
the functional abnormalities in mtDNA have been attributed to
anomalies in nuclear deoxyribonucleic acid (nDNA).[1]

Figure 1: Appearance of the patient. The arrows denote the tapes used to elevate the lids

KSS is invariably identified by the triad of: (i) onset before 20

years of age, (ii) progressive external ophthalmoplegia, and (iii)
pigmentary retinopathy. In addition, there must be one of the
following: heart block (often requiring a pacemaker), cerebellar
syndrome, or cerebrospinal fluid protein content of 100 mg/
dl or more. KSS may also manifest with: mental retardation,
limb weakness, high-frequency sensorineural hearing loss,
seizures, short stature, delayed puberty, and cerebral spongiform
degeneration.[1] Endocrine disorders found to be associated with
KSS include: diabetes mellitus, growth hormone deficiency,
hypoparathyroidism, and other endocrinopathies.[2]
The association of ophthalmoplegia and pigmentary degeneration
was first described by Bernard and Scholz in 1944.[3] In 1946,
Paul Sandifer reported the association of ophthalmoplegia and
cardiomyopathy. The cerebral spongiform state found in this
syndrome was later described by Daroff. Hence it is also known as
KearnsSayreDaroff syndrome. In 1958, Kearns and Sayre were
the first to report two cases having the triad of retinitis pigmentosa,
external ophthalmoplegia, and complete heart block.[4]

Figure 2: Right eye fundus, showing the hyperpigmented area

Figure 3: Normal appearing left eye fundus

disease. It is a hypermetabolic state in a patient with normal

thyroid function and abnormally large mitochondria in skeletal
muscles. The abnormal mitochondria seen in these disorders were
discovered to stain with Gomori trichrome stain and observed
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The pigmentation seen in KSS is described as atypical with a saltand-pepper or moth-eaten appearance. It is characterized by a diffuse
depigmentation of the retinal pigment epithelium with the greatest
effect at the macula. A literature search revealed only a single case of
KSS where the retina was normal in appearance.[5] In another case
report, coarse hyperpigmentation of the posterior pole and diffuse
hyperpigmentation with irregular depigmentation in the periphery
were the only retinal findings noted.[6] Diffuse chorioretinal
degeneration and numerous punctuate whitish spots in both
fundi are also known to occur.[7] In yet another case, the salt-andpepper retinopathy in a patient of KSS progressed to peripapillary
loss of the retinal pigment epithelium and choriocapillaris.[8] Our
patient had unusual retinal lesions in the right eye. Such isolated
pigmentary changes have never been reported in the literature. Her
left eye showed no retinal abnormalities. Thus, these are unique
features in a confirmed case of KSS.
Finally, our patient appears to be a unique variant in the
presentation of KSS. The two features which stand out in our
patient are: First, she started to develop symptoms of KSS at
around 50 years of age, which is an unusually late presentation of
this condition. There has only been a single other case reported
with a late onset at 44 years of age.[7] Second, her retinas show no
changes seen in typical cases of KSS. This case report proves that
KSS can have unusual presentations also.

References
1.

DiMauro S, Schon EA, Rowland LP. Mitochondrial encephalomyopathies.

Oman Journal of Ophthalmology, Vol. 5, No. 2, 2012

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Ahmad and Ghani: An unusual ophthalmic presentation of Kearns Sayre syndrome

In: Rowland LP, editor. 9th ed. Merritts textbook of neurology. Section X:
Williams and Wilkins; 615-622.
2. Harvey JN, Barnett D. Endocrine dysfunction in KearnsSayre syndrome.
Clin Endocrinol (Oxf) 1992;37:97-104.
3. Bernard RI, Scholz RO. Ophthalmolplegia and retinal degeneration. Am J
Ophth 1944;27:621.
4. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia and
complete heart block: Unusual syndrome with histologic study in one of
two cases. AMA Arch Ophthalmol 1958;60:280-9.
5. Rajakannan, Gayathri, Prasad W, Ramakrishnan R, Prajna NV.
KearnsSayre syndrome: An atypical presentation. Indian J Ophthalmol
2000;48:54-5.
6. Staudt S, Joussen AM, Rating D, Wilichowski E, Kolling G, HolzFG.

Oman Journal of Ophthalmology, Vol. 5, No. 2, 2012

7.
8.

Pigmented retinopathy as a presenting sign of mitochondrial

encephalomyopathy without external ophthalmoplegia. Ophthalmologe
2003;100:234-7.
Tsuyama Y, Adachi-Usami E, Takeda N. A case of KearnsShy syndrome
with later onset. Ophthalmologica 1993;206:149-51.
Ota I, Miyake Y, Awaya S. Studies of ocular fundus and visual functions
in KearnsSayre syndrome-with special reference to the new stage
classification. Nihon Ganka Gakkai Zasshi 1989;93:329-38.

Cite this article as: Ahmad SS, Ghani SA. Kearns-Sayre syndrome: An
unusual ophthalmic presentation. Oman J Ophthalmol 2012;5:115-7.
Source of Support: Nil, Conflict of Interest: No.

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