Skip to main content
Fig. 2 | BMC Medical Genomics

Fig. 2

From: Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia

Fig. 2

A1-3) Funduscopy of our three patients (A1: Fine mottling, decreased macular reflex, pathologic myopia with tilted disc accompanied by mild temporal optic atrophy, parapapillary atrophy of RPE and choroid, scleral crescent and a blond fundus are seen. A2: There is mild pigmentary changes in macula and 2 + optic disc pallor which is more prominent in temporal side of the disc. A3: A symmetric pigmentary changes and bull’s-eye pattern of macular atrophy with moderate temporal optic atrophy are seen and peripheral fundus appears normal). B1-3: Fundus autofluorescence (FAF) of our three patients (B1: There is focal increased AF at the macula; perifoveal rings of increased autofluorescence surrounded by a rim of decreased AF with a “bull’s-eye appearance. B2: Focal increased autofluorescence at the macula, spots of increased and decreased autofluorescence around it and a small spot of hypo- autofluorescence are seen in the center of fovea. B3: There is a dense, round hypo-AF at the center of the macula with a rim of hyper-AF and a ring of reduced AF around it)

Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us