This 51YO female presented with 2 years of progressive night vision loss. There was a history of a prior traumatic brain injury, along with a renal transplant in 2011. VA was 20/60 OD and 20/50 OS.
Optos color and fundus autofluorescence (FAF) imaging show extremely symmetrical findings. A gutter of pigment loss extends along the inferotemporal arcades and inferior to the optic nerve into the inferior peripheries, where there is more extensive chorioretinal scarring with intraretinal pigment migration.
The gutters are classic findings in subretinal exudation, most commonly central serous chorioretinopathy (Yannuzzi et al, Ophthalmology 1984;91:1554-1572). The intraretinal pigment migration can also be seen following blunt trauma (pseudo-RP).
OCT B-scanning shows outer retinal thinning and a probable thickened choroid bilaterally, possibly supporting the central serous diagnosis. However, the marked symmetry of all these findings made us feel that trauma or central serous was unlikely. VF testing shows marked diffuse depression.
Subsequent workup included full field electrophysiology and genetic testing. Dark-adapted ERG showed normal amplitudes, but the light-adapted and cone flicker responses were severely reduced. Her genetic testing revealed pathologic mutations in the NPHP1, ABHD12, LRP5, and PDE6A genes.
The NPHP1 mutation, coupled with her retinal findings and kidney history, confirmed a rare genetic autosomal recessive renal-retinal syndrome known as Senior-Løken Syndrome.
Learning Points:
Senior-Løken Syndrome was first described independently in 1961 by Senior et al as juvenile familial nephropathy and tapetoretinal degeneration (AJO 1961;52:625-633) and Løken et al as hereditary renal dysplasia and blindness (Acta Paediatrica 1961;50:177-184).
Cystic kidney disorders known as nephronophthisis are associated with retinal findings that fall within the broader category of retinal ciliopathies (Adams et al, Ophthalmic Genetics 2007;28:113-125), including Leber congenital amaurosis and some variants of retinitis pigmentosa. Less than 200 cases of Senior-Løken have been reported.
