COFFIN-SIRIS SYNDROME (CASE REPORT)
Inna Vladimirovna Zol’nikova , Marija Imamalievna Subbota , Lejla Jadullaevna Akhadova , Ol'ga Nikolaevna Rogulina , Irina Viktorovna Egorova , Elena Vasil'evna Rogatina , Svetlana Jur'evna Rogova , Galina Stanislavovna Golosnaya
Russian Pediatric Ophthalmology ›› 2013, Vol. 8 ›› Issue (2) : 60 -63.
COFFIN-SIRIS SYNDROME (CASE REPORT)
Coffin-Siris syndrome is a very rare hereditary disease (OMIM, 135900) that was described for the first time by G. Coffin and E. Siris in 1970. Only 50 reports of this condition have thus far been published in the medical literature. The authors report a case of clinically confirmed Coffin-Siris syndrome in a boy aged 3 years and 4 months with the results of ophthalmological, neurological, orthopedic, and cardiological examination as well as the data of the instrumental studies including computed tomography and evaluation of visual evoked potentials. It is argued that Coffin-Siris syndrome involves multiple systemic pathology. The clinical manifestations of the disturbed visual function include megalocornea and partial atrophy of optic nerve confirmed by VEP.
Coffin-Sirin syndrome / electrophysiology / visual evoked potentials / partial optic nerve atrophy / optical neuropathy / megalocornea / X-ray studies / genetic tests
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