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September's Case of The Month: Senior-Loken Syndrome

This 51YO female presented with two years of decreasing night vision. 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 (left) and fundus autofluorescence (FAF, right) imaging show extremely symmetrical findings (image 1). 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 for 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). VF testing shows marked diffuse depression (image 2, top). Triton swept-source OCT shows marked retinal thinning (image 2). 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 were unlikely. Subsequent workup included full field electrophysiology and genetic testing. Dark adapted ERG showed normal amplitudes, but the light adapted and cone flicker 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. This 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 accompany the retinal findings which are part of the broader category of retinal ciliopathies (Adams et al, Ophth 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.