Diagnosis commonly occurs later in childhood and often occurs incidentally in asymptomatic patients or as a cause of visual impairment. The first symptoms are commonly found during routine vision screenings. A number of examinations can be used to determine the extent of the syndrome and its severity. Fluorescein angiography is quite useful in diagnosing retinal features of the disease, and the use of ultrasonography and optical coherence tomography (OCT) are helpful in confirming the disease. Neuro-ophthalmic examinations reveal pupillary defects (e.g. Marcus Gunn Pupil). Funduscopic examinations, examinations of the fundus of the eye, allow detection of arteriovenous malformations. Neurological examination can determine neurological deficits such as hemiparesis and paresthesias. MRI scans are used in imaging the brain and can allow visualization of the optic nerve and any possible atrophy. MRI, CT, and cerebral angiography may all be used to investigate the extent and location of any vascular lesions affecting the brain.
Bonnet–Dechaume–Blanc syndrome
Bogart–Bacall syndrome
Favre–Racouchot syndrome
Papillon–Lefèvre syndrome
Jeavons syndrome
Hagemoser–Weinstein–Bresnick syndrome
Gougerot–Blum syndrome
Young–Simpson syndrome