Skip to main content
Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

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

Fig. 2

Short Wavelength and Near Infrared Autofluorescence Findings of KLHL7 mutation. Short-wave (SW-) and near-infrared autofluorescence (NIR-AF) imaging demonstrated a hyperautofluorescent ring in P1, P3, and P5 with diffuse peripheral hypoautofluorescence and peripapillary atrophy. P2 and P4 presented with more severe phenotypes with absent hyperautofluorescent rings and dense peripheral and peripapillary atrophy. P4 in particular was noted to have an additional smaller ring of atrophy surrounding the fovea

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172