In this study, we report a 26-year-old female case of Niemann–Pick disease type C in association with Fuchs heterochromic iridocyclitis who was admitted with the complaint of ocular pain and redness following trauma. She had mild inflammatory signs and also vertical ocular motility limitations.

Adams–Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia cutis congenita and limb anomalies as well as mild pachygyria and focal acrania in neuroimaging. No other internal organ involvement was obvious in this patient. Family history was negative for this syndrome. AOS is a multisystem disorder, and so it is crucial to investigate for internal organ involvements.