Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann-Streiff-Francois syndrome.

作者: Deepa Jagadish Muthugaduru , Chinmaya Sahu , Mohammad Javed Ali , Ashwin Dalal , Subhadra Jalali

DOI: 10.1007/S10633-013-9389-7

关键词:

摘要: Purpose To report new aspects of the phenotype including Retinal dystrophy and surgical challenges in Hallermann-Streiff Francois syndrome (HSFS).

参考文章(16)
Niranjan Pehere, Subhadra Jalali, Himanshu Deshmukh, Chitra Kannabiran, Posterior microphthalmos pigmentary retinopathy syndrome. Documenta Ophthalmologica. ,vol. 122, pp. 127- 132 ,(2011) , 10.1007/S10633-011-9266-1
I. Perlman, E. Meyer, T. Haim, S. Zonis, Retinal function in high refractive error assessed electroretinographically. British Journal of Ophthalmology. ,vol. 68, pp. 79- 84 ,(1984) , 10.1136/BJO.68.2.79
Rohit S Adyanthaya, Howard S Ying, James T Handa, Michael X Repka, Macular Retinal Detachment in Hallermann-Streiff Syndrome Archives of Ophthalmology. ,vol. 126, pp. 271- 273 ,(2008) , 10.1001/ARCHOPHTHALMOL.2007.39
Donald H. Stewart, Abnormal Scleral Collagen in Nanophthalmos Archives of Ophthalmology. ,vol. 109, pp. 1017- 1025 ,(1991) , 10.1001/ARCHOPHT.1991.01080070129050
J.R. Wolter, D.H. Jones, Spontaneous Cataract Absorption in Hallermann-Streiff Syndrome Ophthalmologica. ,vol. 150, pp. 401- 408 ,(1965) , 10.1159/000304868
Antonio Pizzuti, Elisabetta Flex, Rita Mingarelli, Carmelo Salpietro, Leopoldo Zelante, Bruno Dallapiccola, A homozygous GJA1 gene mutation causes a Hallermann‐Streiff/ODDD spectrum phenotype Human Mutation. ,vol. 23, pp. 286- 286 ,(2004) , 10.1002/HUMU.9220
Helena Proença, A. Castanheira–Dinis, M. Monteiro–Grillo, Bilateral nanophthalmos and pigmentary retinal dystrophy--an unusual syndrome. Graefes Archive for Clinical and Experimental Ophthalmology. ,vol. 244, pp. 1203- 1205 ,(2006) , 10.1007/S00417-005-0230-1
Joshua W. Kim, David A. Boes, James L. Kinyoun, Optical Coherence Tomography of Bilateral Posterior Microphthalmos With Papillomacular Fold and Novel Features of Retinoschisis and Dialysis American Journal of Ophthalmology. ,vol. 138, pp. 480- 481 ,(2004) , 10.1016/J.AJO.2004.03.015
Lisa R. David, Michael Finlon, David Genecov, Louis C. Argenta, Hallermann-Streiff Syndrome Journal of Craniofacial Surgery. ,vol. 10, pp. 160- 168 ,(1999) , 10.1097/00001665-199903000-00013