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Fig. 2 | Human Genomics

Fig. 2

From: A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

Fig. 2

Clinical investigations. Fundus photograph of proband’s both eyes (a) shows papillary pallor, fundus albipunctatus, narrowed retinal arteries and temporal displacement of the papilla opaque vessels. A horizontal SD–OCT scan (b) shows numerous well-demarcated homogenous dome-shaped lesions originating from the RPE layer and diffused to the IS/OS junction of the photoreceptors, external limiting membrane, and into the outer nuclear layer. Visual field of both eyes (c) shows adeep impairment of visual field from tapeto-retinal degeneration; GHT’s 30° Threshold Test denotes annular scotom in the explored area with central vision islands

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Human Genomics

ISSN: 1479-7364