SUN-458 A rare case of familial blindness and renal failure - Von Hippel Lindau syndrome

Abstract

Von Hippel Lindau (VHL) is an autosomal dominant familial cancer predisposition syndrome with multitude of benign and malignant multivisceral tumors. We intend to present one such case with familial blindness and renal failure who never got evaluated for her blindness. 42 yr old lady presented with intermittent abdominal pain located in lumbar region, on probing for any other history in past or present she gave history of childhood episode of painless blindness in her left eye, which clinically appeared to be normal. Her family history revealed bilateral blindness in her father and brothers and death due to chronic kidney disease at young age in her younger sister. Her MRI reports revealed Bilateral simple cysts in kidneys along with few cysts in pancreas also showed complex cysts at lower pole of both kidneys Bosniak 3/4. Her occular examination revealed left phthisis bulbi possibly due to retinal heminangiomas. Her family members were examined which revealed retinal hemangiomas and bilateral cystic kidney disease consistent with the familial syndrome. To prove the association of all clinical findings complete gene Exome mapping for the patient was done which confirmed Heterozygous mutation in Gene VHL + on Exon 2 confirming the diagnosis of Von Hippel –Lindau syndrome Complete gene Exome mapping for the patient was done which confirmed Heterozygous mutation in Gene VHL + on Exon 2 confirming the diagnosis of Von Hippel –Lindau syndrome A familial disease has led to familial blindness and renal failure probably due to renal cell carcinoma in the family, lack of conclusive diagnosis and genetic counseling has led to unfortunate early death of family members.