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Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation

An experienced ophthalmologist can make an anatomical diagnosis of childhood visual impairment based upon the surgical sieve, i.e., congenital and acquired. But an ophthalmologist cannot work in isolation to make an aetiological diagnosis – one would require the help of...

Avoiding investigations through history taking and examinations to differentiate serious from comparably benign aetiology

*Joint first authors. Introduction Anisocoria can be a sign of neurological deficit, necessitating numerous investigations [1]. This case report explores how expensive and time-consuming investigations can be avoided by thorough history taking and examination to differentiate serious from comparably benign...