About Williams syndrome. Literature review and case report
https://doi.org/10.21516/2072-0076-2025-18-4-144-150
Abstract
The authors present a literature review and their own observation of a 6-year-old child with Williams syndrome, which, however, was not immediately diagnosed. Initially, the child was diagnosed with partial optic nerve atrophy (ONA). The presence of photophobia, normal optic nerve coloration in combination with low visual acuity gave reason to suspect congenital retinal pathology. Based on the obtained data of a comprehensive examination (including the use of visual evoked potentials for a flash and a reversible pattern, testing color vision, etc.), the diagnosis of ONA was exluded and the following diagnosis was made: OU — cone retinal dystrophy, congenital nystagmus. In addition, the boy’s extreme sociability and talkativeness (he constantly demanded attention) attracted attention, although some phrases in the child’s speech were meaningless and unrelated. After retrosclerofilling with Alloplant biomaterial, the patient was discharged with a recommendation to undergo a genetic examination. After examination at the Bochkov N.P. Medical Genetic Center (Moscow), the child was diagnosed with a rare genetic pathology — Williams syndrome.
About the Authors
O. I. Orenburkina
Russian Center for Eye and Plastic Surgery, Bashkir State Medical University;
Peoples’ Friendship University of Russia named after Patrice Lumumba
Russian Federation
Russian Federation
Olga I. Orenburkina — Dr. of Med. Sci., director, Russian Center for Eye and Plastic Surgery, Bashkir State Medical University, associate professor of chair of eye diseases, Peoples’ Friendship University of Russia named after Patrice Lumumba
67, Bldg. 1, Richard Sorge St., Ufa, 450075,
6, Miklukho-Maklaya St., Moscow, 117198
I. V. Baranchikova
Russian Center for Eye and Plastic Surgery, Bashkir State Medical University
Russian Federation
Russian Federation
Irina V. Baranchikova — ophthalmologist
67, Bldg. 1, Richard Sorge St., Ufa, 450075
D. I. Koshelev
Russian Center for Eye and Plastic Surgery, Bashkir State Medical University
Russian Federation
Russian Federation
Dmitry I. Koshelev — Cand. of Biol. Sci., associate professor, head of the laboratory of neurophysiology of vision
67, Bldg. 1, Richard Sorge St., Ufa, 450075
A. E. Babushkin
Ufa Eye Research Institute, Bashkir State Medical University
Russian Federation
Russian Federation
Aleksandr E. Babushkin — Dr. of Med. Sci., head of the department of scientific research and development arrangement
90, Pushkin St., Ufa, 450008
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Review
For citations:
Orenburkina O.I., Baranchikova I.V., Koshelev D.I., Babushkin A.E. About Williams syndrome. Literature review and case report. Russian Ophthalmological Journal. 2025;18(4):144-150. (In Russ.) https://doi.org/10.21516/2072-0076-2025-18-4-144-150
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