Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis
Turkish Journal of Ophthalmology · Ağustos 2024
YÖKSİS Kayıtları
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis
Turkish Journal of Ophthalmology · 2024 ESCI
DOKTOR ÖĞRETİM ÜYESİ EMİNE TINKIR KAYITMAZBATIR →
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis
Turkish Journal of Ophthalmology · 2024 ESCI
DOKTOR ÖĞRETİM ÜYESİ AYŞE BOZKURT OFLAZ →
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis.
Turkish journal of ophthalmology · 2024 ESCI
PROFESÖR BANU BOZKURT →
Makale Bilgileri
DergiTurkish Journal of Ophthalmology
Yayın TarihiAğustos 2024
Cilt / Sayfa54 · 235-239
Scopus ID2-s2.0-85203046660
Erişim🔓 Açık Erişim
Özet
Cystinosis is a rare autosomal recessive lysosomal storage disease associated with high mortality and morbidity rates. The most distinctive ocular manifestations of cystinosis are photophobia, tearing, and blurred vision. Herein, we assessed the ocular involvement of four patients from two families diagnosed with infantile nephropathic cystinosis using optical coherence tomography (OCT) and in vivo confocal microscopy (IVCM). Anterior segment OCT demonstrated multiple hyperreflective punctate deposits, and IVCM revealed needle-shaped bright crystal deposits in the corneal stroma in all patients. Three patients also had crystal deposits in the epithelium, where epithelial cell disruption was observed. Crystal deposits around the subepithelial nerve plexus were noted in some sections. In one patient, round and needle-shaped bright deposits along with inflammatory cells were observed in the limbal region of the conjunctiva. Infrared fundus images of two female siblings revealed hyperreflective crystal-like deposits around the optic disc, macula, and peripheral retina, and enhanced depth imaging OCT showed accumulation of crystals in all layers of the retina.
Yazarlar (5)
1
Sema Üzüm
ORCID: 0009-0000-0164-1449
2
Ayşe Bozkurt Oflaz
ORCID: 0000-0001-5894-0220
3
Sadagat Guluzade
ORCID: 0009-0008-7795-5477
4
Emine Tınkır Kayıtmazbatır
ORCID: 0000-0002-8553-6992
5
Banu Bozkurt
ORCID: 0000-0002-9847-3521
Anahtar Kelimeler
Infantile nephropathic cystinosis
in vivo confocal microscopy
optical coherence tomography
Kurumlar
Selçuk Tip Fakültesi
Konya Turkey
Metrikler
2
Atıf
5
Yazar
3
Anahtar Kelime