Distal renal tubular acidosis with ocular cystinosis

A case of distal renal tubular acidosis with ocular cystinosis has been reported.A 10yr old boy presented with failure to thrive, short stature knocked knees since the age of 9 months was diagnosed to have distal renal tubular acidosis and was treated for the same. An ophthalmologic evaluation done at the age of 10 years revealed features suggestive of ocular cystinosis. Suspecting cystinosis as an underlying etiology at an earlier age in this clinical scenario could have prevented the potentially reversible renal damage acidosis. A slit lamp examination performed at an earlier age would have been crucial in establishing the diagnosis preventing declining renal function