Journal des syndromes génétiques et de la thérapie génique

Journal des syndromes génétiques et de la thérapie génique
Libre accès

ISSN: ISSN: 2157-7412


Excyclotropia Leading to Meridoneal Amblyopia in Apert’s Syndrome

Sanjoy Chowdhury, Madhumita Srivastava, Nilanjan Chowdhury

Apert’s syndrome is a very rare disease. Besides scarce features of acrocraniosynostosis, its ocular features are also predominant. Three cases, which are reported here, had typical features of the syndrome. Additionally one case of eighteen year old girl presented with meridoneal amblyopia due to excyclotropia. To our knowledge this is the first case report where fundus picture confirms presence of excyclotropia in Apert’s syndrome. Second case had corneal erosion in proptosed eyes and third case was of a 12 years girl with severe proptosis along with craniosynostosis and syndactyly of all four limbs. The purpose of this report is to show the frequency of this syndrome in Jharkhand and highlighting the orbital and facial deformities and severe syndactyly of patients.