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Abstract
Purpose
To report clinical and functional results in two female siblings with Bietti crystalline retinopathy.
Case summary
Recently, a 48-year-old female with bilateral intraretinal depositions presented with a complaint of decreased visual acuity and night blindness in both eyes. Several tiny glistening yellow intraretinal crystalline depositions were observed. Fluorescein angiography showed a well-demarcated choriocapillaris filling defect and pigment epithelial window defect. Electro-physiologic tests showed decreased amplitude and OCT scans showed fine intraretinal lesions with increased signal intensity. In addition, a 50-year-old female sibling presented with bilateral yellow, intraretinal crystalline depositions. A choriocapillaris filling defect and pigment epithelial window defect in a fluorescein angiography was observed. Electrophysiologic tests showed severely decreased amplitude.
References
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Figure 1.
Case 1. (A) Numerous retinal crystals are found throughout the posterior pole and mid-periphery. Pigmentary clumps, atrophy of the retinal pigment epithelium, and choriocapillaris atrophy are also found. (B) An early phase of fluorescein angiography. It shows well defined choriocapillaris filling defects and pigment epithelial window defect. The crystalline deposits do not stain, but some of them block the fluorescence. (C) Indocyanine green angiography shows patchy atrophy of the choriocapillaris and pigment epithelial window defect. (D) OCT scans show intraretinal hyperintense lesions.
Figure 3.
Case 1. Multifocal ERG shows reduced amplitude at the central macular area. (A) right eye, (B) left eye.
Figure 5.
Case 2. (A) Numerous retinal crystals are found throughout the posterior pole and mid-periphery. Pigmentary clumps, atrophy of the retinal pigment epithelium, and choriocapillaris atrophy are also found. (B) An early phase of fluorescein angiography. It shows generalized choriocapillaris filling defects and pigment epithelial window defect. The crystal line deposits do not stain, but some of them block the fluorescence.
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