Skip to main content
. 2018 Dec 5;8(1):125–136. doi: 10.1007/s40123-018-0156-4

Table 3.

Other miscellaneous ocular findings in patients with infantile nephropathic cystinosis

Ocular findings Blepharitis/chalazia Punctate corneal erosions Corneal scarring Glaucoma/ocular hypertension Retinal pigment epithelial atrophy Optic nerve swelling/raised ICPa Ocular motility disorder (external ophthalmoplegia)
Number of patients 6 3 1 2 1 3 1

aTwo patients had a Chiari malformation, so the swollen optic nerve was assumed to be the result of increased intracranial pressure. The patient had previously received growth hormone, but not responded, and continued to experience obstructive sleep apnoea despite adeno-tonsillectomy. Third patient had confirmed raised ICP on lumbar puncture