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...
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