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Doc Ophthalmol. 2013 Oct;127(2):147-53. doi: 10.1007/s10633-013-9389-7. Epub 2013 Jun 1.

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.

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1
Srimati Kannuri Santhamma Centre for Vitreoretinal diseases, L V Prasad Eye Institute, Kallam Anji Reddy campus Banjara Hills, Hyderabad, 500034, India.

Abstract

PURPOSE:

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

METHODS:

Detailed phenotype of a female with HSFS was evaluated including skeletal changes, comprehensive eye examination, detailed ocular biometry, electroretinography and macular Ocular coherence tomography. Surgical notes of lid surgery for entropion were reviewed. Genetic screening was also done.

RESULTS:

Unique Ocular biometry with electroretinography changes, macular folds and fundus changes suggestive of an unreported Retinal dystrophy in a typical patient with HSFS were noted. Surgery was challenging both due to difficulty in endotracheal intubation anaesthesia because of the dento-facial abnormalities and the skin fragility.

CONCLUSION:

This report provides additional information especially pigmentary retinal dystrophy, macular folds and electroretinography in HSFS. The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos. The surgical difficulties and outcomes of the rarely encountered adnexal abnormalities emphasize the need for a multi disciplinary approach for appropriate management.

PMID:
23728903
DOI:
10.1007/s10633-013-9389-7
[Indexed for MEDLINE]
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