Unilateral Congenital Glaucoma with Buphthalmos in Two Sisters – Case Report with Long Term Follow-up.

Wydanie 1/2022
str. 45 – 50

Autorzy: Agnieszka Tronina^1,2, Michał Bogocz³, Erita Filipek^1,2

1. Klinika Okulistyki Dziecięcej Katedry Okulistyki Wydziału Nauk Medycznych w Katowicach Śląskiego Uniwersytetu Medycznego w Katowicach
   Kierownik: dr hab. n. med. Erita Filipek
2. Oddział Okulistyki Dziecięcej Uniwersyteckiego Centrum Klinicznego im. prof. K. Gibińskiego Śląskiego Uniwersytetu Medycznego w Katowicach
   Kierownik: dr hab. n. med. Erita Filipek
3. Oddział Okulistyki Dorosłych Uniwersyteckiego Centrum Klinicznego im. prof. K. Gibińskiego Śląskiego Uniwersytetu Medycznego w Katowicach
   Kierownik: prof. dr hab. n. med. Ewa Mrukwa-Kominek

Summary: 

Primary congenital glaucoma is a rare condition but the most common form of glaucoma in infants. It occurs with variable frequency in different countries and ethnic groups. It is considered an autosomal recessively inherited disorder but is known to occur as a result of de novo genetic mutations. It causes increased intraocular pressure on the background of congenital iridotrabeculodysgenesis and is a cause of severe optic neuropathy due to apoptotic degeneration of the retinal ganglion cell layer. We present the description of siblings with unilateral ipsilateral congenital glaucoma. Both sisters had corneal opacity and one had Haab’s striae at the time of diagnosis. Both patients underwent trabeculectomy by age one, less than 6 months after diagnosis. Results of regular follow-up examinations and long-term follow-up showed no changes in retinal morphology, no progression of the disease, and intraocular pressure stabilized over the long term.