Visual Function in Noonan and LEOPARD Syndrome

被引：20

作者：

Alfieri, P. ^{[1
,6
]}

Cesarini, L. ^{[1
]}

Zampino, G. ^{[2
]}

Pantaleoni, F. ^{[3
]}

Selicorni, A. ^{[4
]}

Salerni, A. ^{[5
]}

Vasta, I. ^{[2
]}

Cerutti, M. ^{[4
]}

Dickmann, A. ^{[5
]}

Colitto, F. ^{[1
]}

Staccioli, S. ^{[1
]}

Leoni, C. ^{[2
]}

Ricci, D. ^{[1
]}

Brogna, C. ^{[1
]}

Tartaglia, M. ^{[3
]}

Mercuri, E. ^{[1
]}

机构：

[1] Catholic Univ, Pediat Neurol Unit, Rome, Italy

[2] Catholic Univ, Serv Epidemiol & Clin Difetti Congeniti, Ist Clin Pediat, Rome, Italy

[3] Ist Super Sanita, Dipartimento Biol Cellulare & Neurosci, I-00161 Rome, Italy

[4] Policlin Mangiagalli, Clin Pediat IRCCS Fdn 1, Ambulatorio Genet Clin, Milan, Italy

[5] Catholic Univ, Dept Ophthalmol, Rome, Italy

[6] Childrens Hosp Bambinolesu, IRCSS, Rome, Italy

来源：

NEUROPEDIATRICS | 2008年 / 39卷 / 06期

关键词：

vision; Noonan syndrome; LEOPARD syndrome; genotype-phenotype;

D O I：

10.1055/s-0029-1216354

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The aim of the study was to assess various aspects of visual and visuoperceptual function in patients with Noonan syndrome (NS) or LEOPARD syndrome (LS) with mutations affecting the PTPN11, SOS1 and RAF1 genes. Twenty-four patients were assessed with a battery of tests assessing Visual function including ophthalmological and orthoptic evaluation and age appropriate behavioural Visual tests, including measures of crowding acuity (Cambridge crowding cards), and stereopsis (TNO test). Twenty-one Subjects were also assessed with the visuo-motor integration (VMI) test. Twenty of the 24 patients (83%) had abnormalities Of Visual function on at least one of the tests used to assess visual function or on ophthalmological examination, and 7 of 21 (33%) also had abnormalities on VMI. Ocular movements and stereopsis were most frequently abnormal (50% and 79%, respectively). Our results suggest that Visual and visuoperceptual abilities are commonly impaired in patients with Noonan and LEOPARD syndrome and they are probably related to a multifactorial etiology.

引用

页码：335 / 340

页数：6

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