.: OKULISTYKA :.

Wydanie 4/2016
str. 100 - 103

Zespół Lowe’a – opis przypadku

Lowe Syndrome – Case Report

Dorota Barchanowska¹, Erita Filipek^1,2, Lidia Nawrocka¹, Bogumiła Wójcik-Niklewska^1,2, Gracjana Fijałkowska¹

¹ Oddział Okulistyki Dziecięcej Uniwersyteckiego Centrum Klinicznego im. prof. K. Gibińskiego Śląskiego
Uniwersytetu Medycznego w Katowicach
² Klinika Okulistyki Dziecięcej Katedry Okulistyki Wydziału Lekarskiego w Katowicach Śląskiego
Uniwersytetu Medycznego w Katowicach
Kierownik: dr hab. n. med. Erita Filipek

Summary: Lowe syndrome is a genetic syndrome of congenital anomalies of oculocerebrorenal disorders. Phenotype of this syndrome consists of congenital cataract, congenital glaucoma, skeletal muscle hypotonia, intellectual disability and Fanconi syndrome (aminoaciduria and tubular acidosis).
We present a case report of a patient who came to our Department of Pediatric Ophthalmology at the age of 3 months diagnosed with congenital cataracts. Patient after a visit to the Department of Pediatric Ophthalmology was qualified for surgical treatment of congenital cataracts in both eyes. The surgery was performed in an aged 3.5 months and 5.5 months. A recent study of the patient were as follows: best corrected visual acuity for distance right eye and left with 15.00 Dsph = both eyes recognize images isolated. Refractometry of right eye: sph+17.00 D cyl + 0.75 Dax 163°, left eye: sph+19.0 D cyl +2.75 Dax 7°. The diameter of the corneas of both eyes were 12.0 x 12.0 mm. Intraocular pressure the right eye was 17 mmHg, the left eye 14 mmHg. Patient is still observed in our clinic.

Słowa kluczowe: zespół oczno-mózgowo-nerkowy, zaćma wrodzona, jaskra wrodzona, gen OCRL, zespół Fanconiego, niepełnosprawność intelektualna.

Keywords: oculocerobrorenal syndrome, congenital cataract, congenital glaucoma, OCRL gen, Fanconi syndrome, mental retardation.

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