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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa

Fig. 3

Central EZ preservation in Optical Coherence Tomography of Patients with KLHL7 mutation. Spectral domain optical coherence tomography of both eyes in five patients with KLHL7 mutation demonstrated a pattern of parafoveal atrophy of the outer retinal layers (white arrows) in seven out of ten eyes (P1, P2, P4, P5). Both eyes of P2 and the right eye of P4 demonstrated global thinning of the inner and outer nuclear layers with loss of photoreceptors. Six of ten eyes (P1, P3, P4, P5) were noted to have differing degrees of cystoid macular edema. P2 was found to have bilateral foveal traction secondary to epiretinal membrane formation

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172