Fundus findings in a case of Joubert syndrome

被引：1

作者：

Chawla, Rohan ^{[1
]}

Bypareddy, Ravi ^{[1
]}

Vekaria, Laxman ^{[1
]}

Venkatesh, Pradeep ^{[1
]}

Ananthashayana, Venkatesh Hosur ^{[2
]}

机构：

[1] All India Inst Med Sci, Dr Rajendra Prasad Ctr Ophthalm Sci, Dept Ophthalmol, New Delhi, India

[2] All India Inst Med Sci, Dept Radiodiag, New Delhi, India

来源：

INDIAN JOURNAL OF OPHTHALMOLOGY | 2017年 / 65卷 / 04期

关键词：

FEATURES;

D O I：

10.4103/ijo.IJO_441_16

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

引用

页码：329 / 330

页数：2

共 7 条

[1] Ocular coloboma: a reassessment in the age of molecular neuroscience [J].

Gregory-Evans, CY ;

Williams, MJ ;

Halford, S ;

Gregory-Evans, K .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (12) :881-891

[2] FAMILIAL AGENESIS OF CEREBELLAR VERMIS - A SYNDROME OF EPISODIC HYPERPNEA, ABNORMAL EYE MOVEMENTS, ATAXIA, AND RETARDATION [J].

JOUBERT, M ;

EINSENRI.JJ ;

ROBB, JP ;

ANDERMAN.F .

NEUROLOGY, 1969, 19 (09) :813-&

[3] Ophthalmic Features of Joubert Syndrome [J].

Khan, Arif O. ;

Oystreck, Darren T. ;

Seidahmed, Mohamed Z. ;

AlDrees, Abdulmajeed ;

Elmalik, Salah A. ;

Alorainy, Ibrahim A. ;

Salih, Mustafa A. .

OPHTHALMOLOGY, 2008, 115 (12) :2286-2289

[4] The primary cilium as a cellular signaling center: lessons from disease [J].

Lancaster, Madeline A. ;

Gleeson, Joseph G. .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2009, 19 (03) :220-229

[5] Clinical features and revised diagnostic criteria in Joubert syndrome [J].

Maria, BL ;

Boltshauser, E ;

Palmer, SC ;

Tran, TX .

JOURNAL OF CHILD NEUROLOGY, 1999, 14 (09) :583-590

[6] ''Joubert syndrome'' revisited: Key ocular motor signs with magnetic resonance imaging correlation [J].

Maria, BL ;

Hoang, KBN ;

Tusa, RJ ;

Mancuso, AA ;

Hamed, LM ;

Quisling, RG ;

Hove, MT ;

Fennell, EB ;

BoothJones, M ;

Ringdahl, DM ;

Yachnis, AT ;

Creel, G ;

Frerking, B .

JOURNAL OF CHILD NEUROLOGY, 1997, 12 (07) :423-430

[7] Joubert syndrome (and related disorders) (OMIM 213300) [J].

Parisi, Melissa A. ;

Doherty, Dan ;

Chance, Phillip F. ;

Glass, Ian A. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (05) :511-521

← 1 →