[Atypical retinitis pigmentosa in Laurence-Moon-Biedl-Bardet syndrome. Report of a case of chronic renal insufficiency under periodic hemodialysis treatment].
A case of Laurence-Moon-Biedl-Bardet syndrome in a patient undergoing hemodialysis is reported. The principal characteristics of this congenital syndrome are described. A possible pathogenetic mechanism of the atypical form of retinitis pigmentosa (sine pigmento) is discussed.
Bianco
G
G
I Istituto di Clinica Chirurgica, Università degli Studi di Roma La Sapienza.
Carlesimo
S C
SC
Mazzarrino
R
R
Palestini
M
M
D000328:Adult; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000628:therapy; D007849:Laurence-Moon Syndrome / Q000150:complications* / Q000628:therapy; D006435:Renal Dialysis / Q000009:adverse effects; D012174:Retinitis Pigmentosa / Q000503:physiopathology*
La retinite pigmentosa atipica nel quadro della sindrome di Laurence-Moon-Biedl-Bardet. Osservazione di un caso in trattamento emodialitico periodico per insufficienza renale cronica.