ISSN: 2148-4902 | E-ISSN: 2536-4553
A case of Bietti crystalline dystrophy with clinical, electrophysiological, and imaging findings [North Clin Istanb]
North Clin Istanb. 2021; 8(5): 521-524 | DOI: 10.14744/nci.2019.78989

A case of Bietti crystalline dystrophy with clinical, electrophysiological, and imaging findings

Murat Garlı, Sevda Aydın Kurna
Department of Ophthalmology, Health Sciences University, Fatih Sultan Mehmet Training and Research Hospital, Istanbul, Turkey

In this study, ophthalmologic examination findings, fundus fluorescein angiography, optic coherence tomography (OCT), visual field testing, electrophysiological, and systemic laboratory findings of a 43-year-old female patient who presented with blurry vision and who had retinal and corneal deposits were examined. Our patients’ best-corrected visual acuity was 0.9 bilaterally. Her anterior segments and intraocular pressures were bilaterally normal. Fundus examination revealed bilateral glistening yellowish intraretinal crystalline deposits in the posterior pole and midperipheral retina. The electroretinographic examination revealed a decrease in scotopic and photopic a and b wave amplitudes. Corneal and intraretinal glistening crystalloid deposits were observed in the OCT. Our patient and her husband were relatives. Her sister’s, brother’s, and children’s OCT also revealed bilateral corneal and intraretinal crystalloid deposits. We diagnosed this case as Bietti’s crystalline dystrophy which is a rare disease with genetic inheritance that must be considered in the differential diagnosis in countries in which consanguineous marriage is often.

Keywords: Bietti’s crystalline dystrophy, crystal deposit; electroretinography.

Klinik, Elektrofizyolojik ve Görüntüleme Bulguları ile bir Bietti’nin Kristalin Distrofisi Olgusu

Murat Garlı, Sevda Aydın Kurna
Department Of Ophthalmology, Health Sciences University, Fatih Sultan Mehmet Training and Research Hospital, İstanbul, Turkey

Bu çalışmada, bulanık görme şikâyeti ile başvuran ve retina ve korneada depozitleri olan 43 yaşındaki kadın hastanın oftalmolojik muayene bulguları, fundus floresein anjiografisi, optik koherens tomografi (OKT), görme alanı, elektrofizyolojik ve sistemik tetkik sonuçları incelendi. Görme keskinlikleri bilateral 0.9 olan hastanın fundus muayenesinde bilateral arka kutupta ve midperifer retinada parlak sarı renkli kristaloid birikintiler görüldü. Elektroretinografik incelemesinde a ve b dalga amplitüdlerinde düşme, ön ve arka segment OKT’sinde korneal ve intraretinal parlak kristaloid birikintiler izlendi. Eşi ile kardeş torunları olan hastamızın kardeşinde ve çocuklarında OKT incelemelerinde bilateral korneal veya intraretinal kristaloid depositler saptandı. Bu bulgularla hastamızda düşündüğümüz Bietti’nin kristalin distrofisi nadir gözükmesine rağmen genetik geçişinden dolayı akraba evliliğinin sık olduğu ülkelerde mutlaka ayırıcı tanıda düşünülmesi gereken bir hastalıktır. (NCI-2019-0110)

Anahtar Kelimeler: Bietti kristalin distrofisi, elektroretinografi, kristal deposit

Murat Garlı, Sevda Aydın Kurna. A case of Bietti crystalline dystrophy with clinical, electrophysiological, and imaging findings. North Clin Istanb. 2021; 8(5): 521-524

Corresponding Author: Murat Garlı
Manuscript Language: English
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