Senior-Loken syndrome

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

Pigmentary retinopathy

An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.


Total: 2

                      


(per page)
PMID (PMCID)
2191234
FEMALE
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study.
Fernandez-Rodriguez R, Morales JM, Martinez R, Lizasoain M, Colina F, Martinez MA, Praga M, Prieto C, Rodicio JL.
Nephron. 1990;55(1):74-7.
We present two sisters with nephronophthisis and pigmentary retinopathy (Senior-Loken syndrome) and associated liver fibrosis.
2191234
FEMALE
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study.
Fernandez-Rodriguez R, Morales JM, Martinez R, Lizasoain M, Colina F, Martinez MA, Praga M, Prieto C, Rodicio JL.
Nephron. 1990;55(1):74-7.
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study.