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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants

Fig. 1

Pedigree of the patient showed that p.T702M and p.I444F mutations were inherited from his mother and father respectively (A). Ophthalmic images showed a retina pigmentation on Fundus photograph (B), tubular visual field of both eyes (C), retinal nerve fiber layer thinning on optical coherence tomography (OCT) images (D). Brain T2 MRI axial scan showed that deepened interpeduncular fossa was not obvious (thick arrow), but molar tooth sign (E-1 open arrow), cauda cerebelli hypoplasia, and midline cleft (E-2 white arrow) were clear. Brain T1 MRI sagittal scan showed hypoplasia of superior cerebellar peduncle (E-3 open arrow)

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