Autosomal dominant congenital superior oblique palsy

ABSTRACT _Purpose_ 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. _Method_ 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. _Results_ 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. _Conclusions_ Our families demonstrate what is probably an

autosomal dominant form of CSOP. It is possible that hereditary CSOP is more common than previously reported. SIMILAR CONTENT BEING VIEWED BY OTHERS VISUAL OUTCOMES IN CHILDREN WITH

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Livingstone, 1995:78–86. Download references AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Ophthalmology, Royal Hallamshire Hospital, Sheffield, UK R M Bhola, D M Squirrell 

& T K Chan * King Edward VII Hospital, Windsor, UK G V Horne * North Trent Genetic Service, Sheffield Children Hospital, Sheffield, UK D Kumar Authors * R M Bhola View author

publications You can also search for this author inPubMed Google Scholar * G V Horne View author publications You can also search for this author inPubMed Google Scholar * D M Squirrell View

author publications You can also search for this author inPubMed Google Scholar * T K Chan View author publications You can also search for this author inPubMed Google Scholar * D Kumar

View author publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to R M Bhola. ADDITIONAL INFORMATION Presented in part at the annual

scientific conference of the British Orthoptic Society, July 2000 RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Bhola, R., Horne, G., Squirrell, D. _et

al._ Autosomal dominant congenital superior oblique palsy. _Eye_ 15, 479–484 (2001). https://doi.org/10.1038/eye.2001.159 Download citation * Received: 11 October 2000 * Accepted: 14

February 2001 * Issue Date: 01 July 2001 * DOI: https://doi.org/10.1038/eye.2001.159 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get

shareable link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * Autosomal

dominant * Congenital * Inheritance * Oblique * Palsy * Superior