Obostrana serozna korioretinopatija i pigmentni glaukom - koja je poveznica?

We present a patient with concurrent pigmentary glaucoma, bilateral central serous chorioretinopathy and unilateral optic disc pit, and propose a possible association of these conditions. Comprehensive ophthalmic examination of a 36-year-old man who was complaining of blurry vision and pain in the eyes showed reduced visual acuity on the left eye, elevated intraocular pressure in the right eye, bilateral signs of pigment dispersion syndrome, and bilateral central serous chorioretinopathy, combined with optic disc pit in the left eye. Visual field and optical coherence tomography findings demonstrated functional and structural glaucoma changes. Choroidal circulation abnormalities were observed by angiographic methods. Genetic and developmental anomalies of the external layer of the optic disc cup that gives rise to many anterior and posterior eye segment structures suggest a possible association of a clinical condition characterized by the combination of pigmentary glaucoma, central serous chorioretinopathy and optic disc pit. Future research would enable to determine proper diagnostic protocols, treatment and follow-up procedures for this chronic-progressive disorder.Prikazujemo slučaj bolesnika s pigmentnim glaukomom, obostranom centralnom seroznom korioretinopatijom i jednostranom jamicom optičkog diska te predlažemo moguću povezanost navedenih stanja. Sveobuhvatnim oftalmološkim pregledom 36-godišnjaka koji se žalio na zamagljen vid i bol u očima ustanovila se smanjena vidna oštrina lijevog oka, povišen očni tlak u desnom oku, obostrani znakovi sindroma disperzije pigmenta, obostrana centralna serozna korioretinopatija te jamica optičkog diska lijevo. Nalazi vidnog polja i optičke koherentne tomografije pokazali su glaukomske funkcionalne i strukturne promjene. Abnormalnosti koroidne cirkulacije uočene su angiografskim metodama. Genetske i razvojne anomalije vanjskog sloja čašice optičkog diska iz kojega se razvijaju strukture prednjeg i stražnjeg segmenta oka ukazuju na moguću vezu u kliničkom stanju koje obilježava kombinacija pigmentnog glaukoma, centralne serozne korioretinopatije i jamice optičkog diska. Buduća istraživanja bi omogućila utvrđivanje odgovarajućih dijagnostičkih postupaka, protokola liječenja i praćenja ovoga kronično-progresivnog stanja

Cystoid macular edema in gyrate atrophy of choroid and retina associated with hyperornithinemia – case report

Cilj: Cilj rada je prikazati klinički tijek, dijagnostiku i liječenje šestgodišnje djevojčice s giratnom atrofijom i obostranim cistoidnim edemom makule. Prikaz slučaja: U četverogodišnje djevojčice tijekom sistematskog pregleda nađeni su slabija vidna oštrina i konvergentni strabizam. Nakon dvogodišnjeg liječenja slabovidnosti primjećuje se obostrani makularni edem te se dijete upućuje na daljnju obradu na Kliniku za oftalmologiju. Djevojčica je tada imala vidnu oštrinu 0.15 na oba oka, obostrani edem makule i ovalne zone korioretinalne atrofije na periferiji mrežnice. Uvedena je antiedematozna terapija. Učinjena je cjelovita klinička i laboratorijska obrada i u plazmi nađena visoka koncentracija ornitina, te je postavljena dijagnoza giratne atrofije (GA) korioretine. U terapiju je uveden piridoksin (vitamin B6). Po terapiji je došlo do neznatnog smanjenja koncentracije ornitina u plazmi te je uvedena i prehrana s ograničenim unosom proteina kojom se također nije postigao željeni učinak. Naposljetku je uz navedeno započeto liječenje aminokiselinom L-lizinom. Kombinacija navedenih terapijskih mjera dovela je do značajnog smanjenja koncentracije ornitina u plazmi, koja je smanjena na oko trećinu u odnosu na koncentracije prije početka liječenja. Uz laboratorijske pokazatelje bolje kontrole bolesti zamijećeno je prolazno kliničko poboljšanje, smanjenje makularnog edema, ali se progresija perifernih atrofičnih lezija nije zaustavila. Zaključak: Cistoidni edem makule u pacijenata s giratnom atrofijom praćen je oslabljenom vidnom oštrinom. Unatoč intenzivnom liječenju edem makule perzistira te je vidljiva daljnja progresija atrofičnih žarišta na periferiji fundusa. Smanjenje koncentracija ornitina u plazmi bitan je preduvjet za usporenje progresije bolesti i odgađanje trajnog gubitka vidne funkcije.Aim: The aim is to present the clinical course, diagnostics and treatment of six-year-old girl with gyrate atrophy and bilateral cystoid macular edema. Case report: Four-year old girl was found with low vision and convergent strabismus in a systematic medical examination. After two years of the amblyopia treatment bilateral macular edema was detected and the child was refered to The Department of Ophthalmology. She presented with the both eyes best corrected visual acuity 0.15, bilateral cystoid macular edema and peripheral, oval zones of chorioretinal atrophy. Antiedematous therapy was administered. Clinical work-up revealed extremely high plasma concentrations of ornithine and the diagnosis of gyrate atrophy (GA) of the chorioretina due to the lack of mitochondrial enzyme ornithine aminotransferase was established. The therapy with pyridoxine (vitamin B6) was started. This treatment led to slight reduction of serum ornithin concentrations; hence, low-protein diet was introduced, but decrease of ornithine concentrations was still insufficient. Therefore, the treatment with amino acid L-lysine was introduced in the therapy. Plasma ornithine concentrations successfully decreased to almost one third of the initial concentration. There was a transient decrease of cystoid macular edema, but atrophic lesions of the peripheral fundus progressed. Conclusion: Cystoid macular edema in patients with gyrate atrophy was followed by impaired visual acuity. Despite the intensive treatment macular edema persisted and further progression of atrophic lesion on the fundus periphery was detected. The maintenance of low plasma ornithine levels is an essential prerequisite for slowing the development of the disease and postponing the permanent loss of visual function