ophthalmologyОфтальмологияOphthalmology in Russia1816-50952500-0845Ophthalmology10.18008/1816-5095-2022-4-841-848ophthalmology-1995Research ArticleКЛИНИЧЕСКИЕ И ЭКСПЕРИМЕНТАЛЬНЫЕ ИССЛЕДОВАНИЯCLINICAL & EXPERIMENTAL RESEARCHОт светобоязни до ахроматопсии. Как установить правильный диагнозFrom Photophobia to Achromatopsia. How to Establish the Correct Diagnosishttps://orcid.org/0000-0003-1711-8585ШурыгинаМ. Ф.ShuryginaM. F.

кандидат медицинских наук, научный сотрудник отдела клинико‑функциональной диагностики, врач‑генетик

Бескудниковский бульвар, 59а, Москва, 127486, Российская Федерация

ул. Губкина, 3, Москва, 117312, Российская Федерация

PhD, research officer, Department for clinical and functional diagnostics, clinicalgeneticist

Beskudnikovsky blvd, 59A, Moscow, 127486, Russian Federation

Gubkina str., 3/1, Moscow, 117312, Russian Federation 

dr.shurygina@mail.ruhttps://orcid.org/0000-0003-3417-1898ХотееваА. М.KhoteevaA. M.

кандидат медицинских наук, младший научный сотрудник отдела клинико‑функциональной диагностики

Бескудниковский бульвар, 59а, Москва, 127486, Российская Федерация

PhD, research officer of the Clinical and functional diagnostics department

Beskudnikovsky blvd, 59A, Moscow, 127486, Russian Federation 

https://orcid.org/0000-0002-9092-6581МишинаИ. А.MishinaI. A.

научный сотрудник научно‑консультативного отдела

ул. Москворечье, 1, Москва, 115522, Российская Федерация

research officer, Scientific advisory department

Moskvorechye str., 1, Moscow, 115522, Russian Federation 

https://orcid.org/0000-0001-5376-925XПисьменскаяВ. А.PismenskayaV. A.

кандидат медицинских наук, младший научный сотрудник отдела клинико‑функциональной диагностики

Бескудниковский бульвар, 59а, Москва, 127486, Российская Федерация

PhD, research officer of the Clinical and functional diagnostics department

Beskudnikovsky blvd, 59A, Moscow, 127486, Russian Federation 

ФГАУ НМИЦ «МНТК “Микрохирургия глаза” им. академика С.Н. Федорова» Министерства здравоохранения Российской Федерации; Центр генетики и репродуктивной медицины «Генетико»РоссияS. Fyodorov Eye Microsurgery Federal State Institution; Center of Genetics and Reproductive Medicine “Genetico”Russian FederationФГАУ НМИЦ «МНТК “Микрохирургия глаза” им. академика С.Н. Федорова» Министерства здравоохранения Российской ФедерацииРоссияS. Fyodorov Eye Microsurgery Federal State InstitutionRussian FederationФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияN.P. Bochkov Research Centre for Medical GeneticsRussian Federation202202012023194841848Copyright © Шурыгина М.Ф., Хотеева А.М., Мишина И.А., Письменская В.А., 20232023Шурыгина М.Ф., Хотеева А.М., Мишина И.А., Письменская В.А.Shurygina M.F., Khoteeva A.M., Mishina I.A., Pismenskaya V.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.ophthalmojournal.com/opht/article/view/1995

Ахроматопсия — врожденное аутосомно-рецессивное заболевание, характеризующееся снижением или полным отсутствием функции колбочек. Клинические симптомы включают в себя светобоязнь, нистагм, низкую максимально корригированную остроту зрения, полное или частичное нарушение цветовосприятия. Мутации в генах CNGA3 и CNGB3 ответственны приблизительно за 70–80 % всех случаев заболевания. Целью работы явилась оценка результатов комплексного клинико-генетического обследования четырех пациентов с установленным диагнозом ахроматопсия. Манифестация заболевания у всех пациентов была в виде выраженной светобоязни и нистагма, появившихся в возрасте от 1,5 до 11 мес. Структурные изменения нейроэпителия по данным оптической когерентной томографии были выявлены у трех пациентов и варьировали от дезорганизации наружных слоев нейроэпителия субфовеально с «размытостью» линии наружной пограничной мембраны и эллипсоидной зоны до субфовеального разрушения наружных сегментов фоторецепторов и наличия щелевидного дефекта. Из семи выявленных нами в генах CNGA3 и CNGB3 мутаций две ранее уже были обнаружены у российских пациентов, пять на территории РФ не выявлялись.

Achromatopsia is a congenital autosomal recessive disorder characterized by decreased or absent cone’s function. Clinical symptoms include photophobia, nystagmus, low best corrected visual acuity, complete or incomplete color vision. Mutations in the CNGA3 and CNGB3 genes are responsible for approximately 70–80 % of all achromatopsia cases. The purpose: to evaluate the results of a comprehensive clinical and genetic examinations of four patients with an established diagnosis of achromatopsia. Onset of the disease in all patients was in the form of severe photophobia and nystagmus, appearing at the age from 1.5 to 11 months. According to optical coherence tomography exams were detected structural changes in neuroepithelium (three patients), varied from subfoveal disorganization of the photoreceptor outer segments with “blurring” of the external limiting membrane line and ellipsoid zone to subfoveal destruction of the photoreceptor outer segments and the presence of a slit defect. Out of seven identified mutations in the CNGA3 and CNGB3 genes, two were previously detected in Russian patients, and five were not detected in the Russian Federation.

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The authors declare that there are no conflicts of interest present.