Retinal Degeneration

Ematuria e non solo... a volte è questione di famiglia: la sindrome di Alport

Sarno E, Alberici I, La Scola C, Pillon R, Pasini A.

2025/3 — pag. 186-190 — DOI

The paper reports the case of a 4-year-old girl with recurrent episodes of macrohematuria. Her family history revealed renal and ocular anomalies. Clinical and genetic analyses confirmed X-linked compound heterozygosity for Alport syndrome, with two ...

Sindrome di Bardet-Biedel

Scupilliti S, Selicorni A.

2025/1 — pag. 43-45 — DOI

Una presentazione atipica della porpora trombocitopenica immune

Leone G, Consentino MC, Pappalardo MG, Leonardi R, Scarlata F, Nannola C, Timpanaro T.

2024/5 — pag. 329-331 — DOI

The authors describe a case of idiopathic autoimmune thrombocytopenia characterized by the onset of visual disturbances due to macular haemorrhage in the left eye....

Se ha crisi e MaNGIE male pensa a mitocondriopatia

Gauci MC, Di Nora A, Meli C

2024/5 — pag. 96-97 — DOI

The diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome, using next-generation sequencing (NGS) panel for genes associated with encephalopathy, was finally made in a 4-year-old girl who presented with marked dystrophy (wi...

Occhio al gatto: la toxoplasmosi retinica

V. Migliarino

2020/4 — pag. 91-91 — DOI

La diagnosi e la presa in carico di sindrome rara associata a ipoacusia

2016/7 — pag. 456-457

Il caso di Avastin e Lucentis: big-pharma vs agenzie regolatorie

F. Marchetti

2014/3 — pag. 143-145

Le malattie mitocondriali

M. Carrozzi, T. Gerarduzzi

2005/1

L’uveite nell’artrite idiopatica giovanile

ME. Zannin, et al.

2004/6 — pag. 383-388

Uveitis is a frequent complication of rheumatic diseases, and represents one of the main causes of visual loss in the pediatric age. In 80% of the cases anterior uveitis is associated with juvenile idiopathic arthritis (JIA) and is chronic and asym...