1. Retinal abnormalities.
Retinal abnormalities. (A) Central or perimacular fleck retinopathy sparing the foveola and located principally in the temporal retina (arrow) in a man with X-linked Alport syndrome, renal failure, and lenticonus. (B and C) Perimacular fleck retinopathy in a woman with X-linked Alport syndrome, renal impairment, and hearing loss (arrows). The flecks are pronounced in the temporal retina. They are more obvious and can be distinguished from the normal retinal sheen on the redfree image (arrows). (D and E) Peripheral coalescing fleck retinopathy in a woman with X-linked Alport syndrome, normal renal function, and hearing loss. The flecks are >2 disc diameters from the foveola and more obvious on the redfree image (arrows). (F) Peripheral retinopathy with widespread evenly distributed retinal flecks (arrows) in an ultrawide field scan (Optos camera) in a man with X-linked disease. The lozenge and central fleck retinopathy are not obvious in this view. (G) Pigment disturbance with bull’s eye maculopathy. There is a ring of hypopigmentation with central hyperpigmentation in a woman with X-linked Alport syndrome, renal impairment, and peripheral retinopathy (arrow). (H) Lozenge from temporal extension of the normal round foveolar reflex (arrow) caused by retinal thinning in a man with X-linked Alport syndrome, renal failure, hearing loss, lenticonus, and perimacular fleck retinopathy. (I) Temporal retinal thinning seen on a cross-section of the retina from a man with X-linked Alport syndrome, renal failure, and hearing loss. (J) Temporal thinning confirmed in the patient from I indicating that the temporal thickness is in the <5th percentile (red). (K–N) Retinal shadow suggesting (K) macular hole in a woman with autosomal recessive Alport syndrome, hearing loss, and lenticonus. (L) The holes are more obvious on a black and white image of the macula and temporal retina. (M) The lamellar holes are confirmed with three well demarcated areas of thinning seen on optimal coherence tomography (OCT) (<200-µm thick). (N) These correspond to three areas of lamellar thinning on OCT. (O) Full-thickness giant macular hole in a woman with Alport syndrome and renal failure.
Judy Savige et al. CJASN 2015;10:
©2015 by American Society of Nephrology