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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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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.

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Acknowledgments

The study is supported by the Hyderabad Eye Research Foundation, which has no role in the design or conduct of this study.

Conflict of interest

No conflicting relationship exists for any of the authors. Dr. Subhadra Jalali is a member of the advisory board of Allergan, not connected with the current study.

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Authors and Affiliations

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

    Deepa Jagadish Muthugaduru, Chinmaya Sahu & Subhadra Jalali

  2. Ophthalmic Plastics and Facial Aesthetic Surgery services, L V Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad, India

    Mohammad Javed Ali

  3. Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India

    Ashwin Dalal

Authors
  1. Deepa Jagadish Muthugaduru
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  2. Chinmaya Sahu
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  3. Mohammad Javed Ali
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  4. Ashwin Dalal
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  5. Subhadra Jalali
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Corresponding author

Correspondence to Subhadra Jalali.

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Muthugaduru, D.J., Sahu, C., Ali, M.J. et al. 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. Doc Ophthalmol 127, 147–153 (2013). https://doi.org/10.1007/s10633-013-9389-7

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  • DOI: https://doi.org/10.1007/s10633-013-9389-7

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