Autosomal dominant congenital superior oblique palsy

We describe a mother and all her offspring with congenital superior oblique palsy (CSOP), and a father and all his sons with unilateral CSOP. We discuss the inheritance pattern in our pedigrees and compare it with previous reports.

All available family members were examined. The prism cover test was performed. Ocular movements were examined in all positions of gaze and where possible a Hess chart plotted. Lang and TNO stereotests were used to determine the stereo-acuity. The results of these tests combined with the Bielschowsky head tilt test (BHTT) were used to confirm the diagnosis of superior oblique palsy. The condition was classified as congenital if it presented early based on history or the observation of old photographs and in the absence of a causative factor.

The affected members of family A consist of a father and his three sons with unilateral CSOP. His daughter had a mild weakness of her left inferior and superior rectus muscle. One of his sons was asymptomatic and only recognised on screening of the family for the study. The affected members of family B consist of a mother and her younger daughter with unilateral CSOP and her older daughter with bilateral CSOP. She had no other children.

Our families demonstrate what is probably an autosomal dominant form of CSOP. It is possible that hereditary CSOP is more common than previously reported.