Othman et al. (2012) described two sisters with Senior Loken syndrome.  The patients were born to first-degree consanguineous parents, and presented in the first year of life with nystagmus and inability to follow light and objects, along with polyuria, polydipsia, and nocturia.  They had chronic kidney disease by the age of 12-years.  Upon evaluation at the age of 15- and 17-years, they were found to be blind and had nystagmus, with a normal fundus.  The younger patient was found to have comorbidity with Sickle Cell Disease.  Abdominal US showed undersized hyperechoic kidneys, and a slightly increased echotexture in the liver.  Tiny cysts were noted in the renal parenchyma by MRI kidney.  Kidney biopsy findings were consistent with an impression of nephropthisis.  A diagnosis of SLSN was made, and the patients were started on hemodialysis for 6-months before they had kidney transplants.  Both parents and all other siblings were normal.  There was negative family history of a similar condition.

AlFadhel and AlAmir (2008) reported an 11-year-old Saudi girl with Senior-Loken syndrome.  She was born to first cousin consanguineous parents, and had two blind sisters, and one maternal uncle who was blind and had renal failure.  The affected patient was blind and had nystagmus.  She had weakness, polyuria, and polydypsia due to on and off vomiting for 2-years.  She had renal failure, anemia, and acidosis, in addition to osteopenia and multiple tiny lucencies, consistent with renal osteodystrophy.  Abdominal US showed findings consistent with nephropthisis.  A diagnosis of Senior Loken Syndrome was made, and renal transplantation was suggested.

Abidi et al. (2014) reported a 28- years-old patient who was diagnosed to have Senior Loken syndrome at the age of 10 years because of renal impairment and tapetoretinal degeneration and was later started on regular hemodialysis.  He had no family history of renal disease, hypertriglyceridemia or cholelithiasis.  He had abdominal tenderness without guarding.  Investigations revealed a lipase level of 3856 I U/l and an abdominal CT scan showed features of acute pancreatitis.  The abdominal ultrasound showed no biliary tree malformations or gallstone obstruction.  He had no history of recent drug intake or alcohol consumption and his serum triglyceride level was normal.  The patient was managed conservatively with good outcome.