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Ophthalmic Images
August 11, 2016

Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome

Author Affiliations
  • 1Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, and Academic Health Science Centre, Manchester, England
  • 2Centre for Ophthalmology and Vision Sciences, Institute of Human Development, University of Manchester, Manchester, England
  • 3Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, England

Copyright 2016 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Ophthalmol. 2016;134(8):e161299. doi:10.1001/jamaophthalmol.2016.1299

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.

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