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Description
An 11-year-old girl with moderate ptosis and chronic progressive ophthalmoplegia (figure 1) was referred for retinal evaluation in view of nyctalopia. Visual acuity on presentation was 20/40 OU. Slit-lamp examination revealed a normal anterior segment. There was no similar family history. Multicolour scanning laser photographs (figure 2A, B) showed retinal pigment granularity in OU that was better appreciated on autofluorescence imaging as speckled hypoautofluorescence and hyperautofluorescence (figure 2C, D). Horizontal spectral domain optical coherence tomography scans through fovea revealed hyper-reflective deposits above the retinal pigment epithelium (figure 2E, F). Systemic workup revealed the gross motor weakness of both upper and lower limbs, mild hearing loss and no cardiac conduction defects. The patient was referred to a paediatric neurologist for further evaluation. Cerebrospinal fluid tap was done which showed elevated lactate (3.10 mg/dL) and protein levels (96 mg/dL). ECG showed no conduction blocks. A muscle biopsy showed few ragged fibres with subsarcolemmal attenuation confirming the diagnosis of Kearns-Sayre syndrome (KSS).
Clinical photograph showing both eye moderate ptosis with chronic progressive external ophthalmoplegia.
(A, B) Multicolour scanning laser photographs showing retinal pigment granularity in OU. (C, D) Fundus autofluorescence imaging of OU showing speckled hypoautofluorescence and hyperautofluorescence. (E, F) Horizontal spectral domain optical coherence tomography scans through fovea revealing hyper-reflective deposits above the retinal pigment epithelium OU.
KSS is a rare mitochondrial disorder characterised by pigmentary retinopathy, chronic progressive external ophthalmoplegia, and an early age of onset before 20 years. Other systemic involvements include deafness, cerebellar ataxia and heart block. Pigmentary retinopathy is an integral component of KSS may vary from subtle pigmentary changes to extensive pigment atrophy simulating retinitis pigmentosa.1 It may appear similar to salt and pepper retinopathy as seen in congenital rubella syndrome. Clinical importance of such changes lies in recognition of systemic disorder, which may be treatable.2
Learning points
Kearns-Sayre syndrome may be associated with pigmentary retinopathy similar to that seen in patients with retinitis pigmentosa.
The pigmentary changes may be subtle and are better appreciated on short-wave autofluorescence.
Footnotes
Contributors SKP, VK and SM: conception of idea, design, analysis and research.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.