A man in his 20s presented to the eye clinic complaining of headaches and increasing problems with his night and peripheral vision. The results of a fundus examination were consistent with retinitis pigmentosa (mid-peripheral retinal pigmentation and attenuated vessels), but bilateral flame-shaped retinal hemorrhages were also observed (Figure). Such hemorrhages suggest elevated blood pressure, and further investigations revealed accelerated hypertension (blood pressure, 225/130 mm Hg) and advanced renal failure (serum creatinine, 8.2 mg/dL). A renal biopsy showed features of end-stage kidney disease, and renal ultrasonography revealed small kidneys with increased echogenicity. The diagnosis of Senior-Loken syndrome (ie, nephronophthisis and retinitis pigmentosa) was made, and hemodialysis was commenced. Renal transplantation was performed 3 years later, successfully stabilizing kidney function. The patient recently visited the eye clinic with his son because he wanted to understand the risk to other family members. Clinical exome sequencing was performed, and 2 heterozygous IFT140 gene mutations were detected, p.(Tyr333Cys) and p.(Trp369*), confirming autosomal recessive inheritance and the diagnosis of Senior-Loken syndrome.
Sergouniotis PI, Hadfield KD, Black GC. Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome. JAMA Ophthalmol. 2016;134(8):e161299. doi:10.1001/jamaophthalmol.2016.1299