Posterior segment
Choroid, Retina and Vitreous: The retina, choroid and vitreous were normal in almost all cases except for a middle-aged man, who had bilateral chorioretinal atrophy and pigmentary degeneration in a distribution akin to retinitis pigmentosa. However, he denied any symptoms of night blindness (nyctalopia). Furthermore, one 10-year-old boy had unilateral total retinal detachment (in the eye, previously described above, with ciliary flush).
Optic nerve: There was optic atrophy in 6 cases. Of these, one patient had bilateral diffuse optic atrophy (Figure 6 c and d) associated with optic-hypothalamic pathway glioma (Figure 6e and f). There was one case of glaucomatous cupping. Moreover, one patient (i.e. the same patient with unilateral retinal detachment) had papilloedema (in the contralateral eye) and was found to have an intracranial (intraventricular) glioma on neuro-imaging 27. There were no cases of optico-ciliary shunts.