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Goldmann visual fields of our patient with Senior-Loken syndrome showing an essentially normal right visual field and an upper nasal defect in the left visual field.
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Eye is the official journal of the Royal College of Ophthalmologists. It aims to provide the practising ophthalmologist with information on the latest clinical and laboratory-based research.
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Context 1
... in the left (Figure 2). This asymmetric field deficit did not correspond with the degree or extent of retinal abnormality seen clinically. Such field defects, especially those localised to the upper field are however commonly seen in moderately severe, panretinal, outer retinal dystrophy. 2 Surprisingly, electrophysiological investigation (using ISCEV standard protocols and Goldfoil electrodes) reported pattern and full field electroretinograms (ERGs) as undetectable. 3 Visual evoked potentials (VEPs) were delayed. It was concluded that these findings were indicative of severe, generalised, retinal dysfunction and VEP abnormalities were secondary to the retinal changes. The electrophysiological investigations, kidney disease and family history suggested a diagnosis of Senior-Loken ...
Context 2
... 36-year-old man with a known diagnosis of PXE presented with a 5-day history of sudden onset right sided blurred vision. His best corrected visual acuity was 6/9 in the right eye and 6/6 in the left eye. Anterior segment examination was normal except for a right-sided relative afferent pupillary defect. Intraocular pressure was normal in both eyes. Fundus examination revealed angioid streaks, pigment mottling of the fundus in both eyes and pallor of the right optic disc (Figure 1). Physical examination revealed cutaneous lesions of PXE in the form of yellowish papules on the neck. Visual field analysis showed a right homonymous visual field defect. Fundus fluorescein angiogram confirmed the absence of CNVM. Magnetic resonance imaging (MRI) of the brain and orbits was performed. Axial fluid attenuated inversion recovery (FLAIR) sequence MRI of the brain revealed multiple ischaemic infarcts in the brain, the largest being in the left parieto-occipital lobe (Figure 2). The orbits and optic nerves were however ...
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Citations
... However, there is currently no treatment to prevent or stop the progression of vision loss due to retinal dystrophy, but various low-vision aids may be helpful for those who have remaining vision. Coexisting cataracts should be surgically corrected despite severe retinopathy as patients benefit from improved visual acuity following surgery [14]. Families and individuals with a family history of autoimmune disorders should be genetically screened for any of the NPHP genes. ...
Senior-Loken syndrome (SLS) is a rare autosomal recessive disorder affecting the eyes and the kidneys. It is an extremely rare disorder with an incidence of 1/1,000,000. Like most hereditary disorders, it is more commonly seen in families with consanguineous marriages.
Here, we present a case of a 35-year-old male with a complicated past medical history, who presented to us in the outpatient department for kidney transplant consideration. The patient was diagnosed case of Senior-Loken syndrome with a family history of autoimmune diseases, renal disease, and multiple unexplained miscarriages. He also had multiple dialysis access-related complications requiring frequent access changes. He previously had an unrelated pre-emptive renal transplant which resulted in graft failure within 48 hours. In view of his history, a prothrombotic condition was suspected and the patient was started on warfarin. Workup was positive for lupus anticoagulant and hematology recommended lifelong anticoagulation. The patient had a related renal transplant that was successful. He is now on apixaban and has not had any thrombotic complications to date.
This patient had antiphospholipid syndrome leading to multiple thrombotic events and a failed graft, but was never worked up for autoimmune disorders despite having a strong family history. His renal disease was presumed to be secondary to a rare condition - Senior-Loken syndrome and he was not investigated for a co-existing condition (e.g., antiphospholipid syndrome {APLS} in this case) which led to early graft failure. Hence when considering a patient for transplant, care should be taken to rule out autoimmune diseases and not ignore possible co-existing conditions in the presence of a renal pathology.
... The renal involvement of this syndrome is well defined. 1 It is identical to those of isolated nephronophthisis, including course of the renal disease. 2 Polyuria, polydipsia and impaired concentrating ability are the earliest signs. 1,3,4 Nephronophthisis is usually insidious in nature 3 age of 20 years. However, late onset renal failure in the third and fourth decades is reported. ...
Senior-Loken syndrome is a rare syndrome of retinopathy and nephronophthisis. The clinical features of this syndrome include renal involvement, ocular involvement, retinitis pigmentosa and other systemic involvement. We describe an 11-year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from the Arabian Peninsula.
Inherited cystic diseases of the kidneys are some of the most significant monogenic causes of renal disorders causing significant morbidity and mortality in both the pediatric and adult populations. There have been considerable advances in the past few decades in identifying and characterizing the genes responsible for these diseases. The genetic aspects, molecular pathogenesis, clinical features, and management of these disorders will be highlighted in this chapter.
Cystic diseases of the kidney are some of the most significant monogenic causes of renal morbidity and mortality in both the pediatric and adult populations. There have been considerable advances in the past decade in identifying and characterizing the genes responsible for these disorders. The genetic aspects, molecular pathogenesis, clinical features, and management of these disorders will be highlighted in this chapter. Although cystic renal disease can be acquired, the primary aim of this chapter will be to focus on those forms that are inherited.
