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.