First Author: S.Tuubel ESTONIA
Co Author(s):
Purpose:
To present a case report of a young woman with a rare autosomal recessive disease – HyperOrnithinaemia with Gyrate Atrophy (HOGA syndrome).
Setting:
: East-Tallinn Eye Clinic, Tallinn, Estonia
Methods:
Retrospective analyses of a case report.
Results:
This is a case report of a young woman (25 y) with hyperornithinaemia and gyrate atrophy. She first came to our clinic as a 9 year old with myopia and complaining of night-blindness. BCVA OD 0,4, OS 0,4. Analyses of aminoacidsshowedornithinaemia 8 timeshigher and hyperornithinuria 200 higherasnormal.Molecular analysis detected homozygous L402P mutation, confirming the clinical diagnoses of HOGA.
Treatmentwithvitamin B6 500mg/per day + arginine-restricteddietwasstarted and in 2005 Lysine 2g 5 timesperdaywasaddedasthepatientdidnotrespondwelltoinitialtreatment. InOct 2012 botheyeshadtobeoperatedduetoposteriorsubcapsularcataracts. BCVA OU 0,3 afterthesurgery.
Conclusions:
HOGA syndrome is a very rare condition, but 1/3 of all these patients are from Finland (next to Estonia), so we must keep it in mind. Majority of patients do not respond well to treatment leading to progression of the disease. Cataract surgery can prolong the time patient can live with useful vision.
Financial Disclosure:
None
