An 18-year-old man with a history of early onset renal disease was referred by our paediatric genetics clinic for ocular examination for suspected Alport syndrome. He had a history of idiopathic intermediate uveitis, which had resolved without treatment. He was known to have end-stage renal failure, sensorineural deafness, and his mother and grandmother had Alport syndrome confirmed on renal biopsy. Visual acuity was 6/9.5 in each eye. Slit lamp examination showed normal cornea and lens. Intraocular pressure was 12 and 13 mmHg in right and left eyes. Dilated fundus examination revealed pericentral dot and fleck retinopathy in both eyes (Fig. 1). There was no peripheral retinal lesion. Spectral-domain optical coherence tomography (Spectralis, Heidelberg Engineering, Heidelberg, Germany) showed focal retinal thinning in the temporal perifoveal region in both eyes resulting in focal depression of varying size and depth on macular thickness map (Fig. 2). There were five focal depressions in the right and three in the left eye.
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