Сase of congenital cataract development in a child with Farh disease

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Abstract

INTRODUCTION: Fahr disease is a rare idiopathic neurodegenerative disorder characterized by the calcification of the basal ganglia, cerebellar dentate nuclei, and surrounding white matter leading to progressive nervous system dysfunction. Cases of congenital cataracts are not described.

AIM: To describe a clinical case of congenital cataract in a pediatric patient with Farh disease.

MATERIAL AND METHODS: Congenital atypical progressive metabolic cataract was diagnosed in a 9-year-old child. Congenital cataract extraction with intraocular lens implantation was performed.

RESULTS: Refraction before operation was sph+2.0 cyl+1.5 ax 107 and sph+0.25 cyl+1.25 ax 74, respectively. The preoperative visual acuity for both eyes was 0.5 log MAR and 1.0 log MAR, respectively. Crystalline lenses were cloudy with atypical star-shaped infusions. Full-field electroretinogram (ERG) a-wave and b-wave were normal for OD and abnormal for OS, and flicker ERG was normal for both eyes. Visually evoked potentials were prolonged for both eyes. The intraocular pressure was normal for both eyes. The axial lengths were 22.60 mm and 22.62 mm, respectively. Exudative reaction was noted postoperatively, and the logMar visual acuity improved to 0.2 for both eyes.

CONCLUSION: Congenital cataracts may be diagnosed in patients with Fahr disease. Dynamic examination of the child with a wide pupil is necessary to identify initial changes in the lens and to refer him/her for surgical treatment. There is an increased risk of exudative reactions in the early postoperative period.

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About the authors

Tatyana B. Kruglova

Helmholtz National Medical Research Center of Eye Diseases

Email: alexandraugust1@gmail.com
ORCID iD: 0000-0003-4193-681X
SPIN-code: 5466-6754

MD, Dr. Sci. (Med.)

Russian Federation, Moscow

Naira S. Egiyan

Helmholtz National Medical Research Center of Eye Diseases

Email: alexandraugust1@gmail.com
ORCID iD: 0000-0001-9906-4706
SPIN-code: 4765-4725

MD, PhD

Russian Federation, Moscow

Aleksandra S. Mamykina

Helmholtz National Medical Research Center of Eye Diseases

Author for correspondence.
Email: alexandraugust1@gmail.com
ORCID iD: 0000-0003-3521-6381

MD, PhD student

Russian Federation, Moscow

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