From Photophobia to Achromatopsia. How to Establish the Correct Diagnosis
https://doi.org/10.18008/1816-5095-2022-4-841-848
Abstract
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.
About the Authors
M. F. Shurygina
S. Fyodorov Eye Microsurgery Federal State Institution;
Center of Genetics and Reproductive Medicine “Genetico”
Russian Federation
Russian Federation
PhD, research officer, Department for clinical and functional diagnostics, clinical
geneticist
Beskudnikovsky blvd, 59A, Moscow, 127486, Russian Federation
Gubkina str., 3/1, Moscow, 117312, Russian Federation
A. M. Khoteeva
S. Fyodorov Eye Microsurgery Federal State Institution
Russian Federation
Russian Federation
PhD, research officer of the Clinical and functional diagnostics department
Beskudnikovsky blvd, 59A, Moscow, 127486, Russian Federation
I. A. Mishina
N.P. Bochkov Research Centre for Medical Genetics
Russian Federation
Russian Federation
research officer, Scientific advisory department
Moskvorechye str., 1, Moscow, 115522, Russian Federation
V. A. Pismenskaya
S. Fyodorov Eye Microsurgery Federal State Institution
Russian Federation
Russian Federation
PhD, research officer of the Clinical and functional diagnostics department
Beskudnikovsky blvd, 59A, Moscow, 127486, Russian Federation
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Review
For citations:
Shurygina M.F., Khoteeva A.M., Mishina I.A., Pismenskaya V.A. From Photophobia to Achromatopsia. How to Establish the Correct Diagnosis. Ophthalmology in Russia. 2022;19(4):841-848. (In Russ.) https://doi.org/10.18008/1816-5095-2022-4-841-848
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