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

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.

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

Bu çalýþmada, bulanýk görme þikâyeti ile baþvuran ve retina ve korneada depozitleri olan 43 yaþýndaki kadýn hastanýn oftalmolojik muayene bulgularý, fundus floresein anjiografisi, optik koherens tomografi (OKT), görme alaný, elektrofizyolojik ve sistemik tetkik sonuçlarý incelendi. Görme keskinlikleri bilateral 0.9 olan hastanýn fundus muayenesinde bilateral arka kutupta ve midperifer retinada parlak sarý renkli kristaloid birikintiler görüldü. Elektroretinografik incelemesinde a ve b dalga amplitüdlerinde düþme, ön ve arka segment OKT’sinde korneal ve intraretinal parlak kristaloid birikintiler izlendi. Eþi ile kardeþ torunlarý olan hastamýzýn kardeþinde ve çocuklarýnda OKT incelemelerinde bilateral korneal veya intraretinal kristaloid depositler saptandý. Bu bulgularla hastamýzda düþündüðümüz Bietti’nin kristalin distrofisi nadir gözükmesine raðmen genetik geçiþinden dolayý akraba evliliðinin sýk olduðu ülkelerde mutlaka ayýrýcý tanýda düþünülmesi gereken bir hastalýktýr. (NCI-2019-0110)