Retinitis pigmentosa (RP) or hereditary retinal dystrophy is a rare disease that can be isolated (non-syndromic RP) or associated with other systemic signs (syndromic RP). Kidney damage is exceptionally reported in patients with RP, particularly in syndromic forms. Association with renal amyloidosis remains unusual with only one reported case of RP and hereditary gelsolin amyloidosis due to a G654A gelsolin mutation defining the new syndrome of Ardalan-Shoja-Kiuru. Apart from this publication, no case associating RP and AL amyloidosis has been found. We report an original case of renal damage revealing kappa-type systemic light chains amyloidosis (AL amyloidosis) in 35-year-old man with sporadic RP. Our observation is, to our knowledge, the...
The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities...
Finnish-type familial amyloidosis (FAF) is a rare hereditary systemic amyloidosis that mainly exhi-b...
Kidney amyloidosis typically presents with nephrotic-range proteinuria. Rare cases of crescentic glo...
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders. A ...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and...
Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and char...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and...
International audienceApolipoprotein A1 amyloidosis (ApoAI) results from specific mutations in the A...
Retinitis pigmentosa (RP) is a degenerative disorder typically affecting the retinal rod photorecept...
Amyloidosis involves the deposition of abnormal proteins in various tissues and results in progressi...
Retinitis pigmentosa is a chronic, progressive, hereditary disease of unknown aetiology. The symptom...
Retinitis pigmentosa (RP) is a heterogeneous genetic disorder of the eyes. RP is characterized by ab...
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the ...
Renal amyloidoses are a group of rare misfolding protein diseases caused by the deposition of a prec...
The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities...
Finnish-type familial amyloidosis (FAF) is a rare hereditary systemic amyloidosis that mainly exhi-b...
Kidney amyloidosis typically presents with nephrotic-range proteinuria. Rare cases of crescentic glo...
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders. A ...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and...
Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and char...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and...
International audienceApolipoprotein A1 amyloidosis (ApoAI) results from specific mutations in the A...
Retinitis pigmentosa (RP) is a degenerative disorder typically affecting the retinal rod photorecept...
Amyloidosis involves the deposition of abnormal proteins in various tissues and results in progressi...
Retinitis pigmentosa is a chronic, progressive, hereditary disease of unknown aetiology. The symptom...
Retinitis pigmentosa (RP) is a heterogeneous genetic disorder of the eyes. RP is characterized by ab...
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the ...
Renal amyloidoses are a group of rare misfolding protein diseases caused by the deposition of a prec...
The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities...
Finnish-type familial amyloidosis (FAF) is a rare hereditary systemic amyloidosis that mainly exhi-b...
Kidney amyloidosis typically presents with nephrotic-range proteinuria. Rare cases of crescentic glo...