Documenta Ophthalmologica

, Volume 127, Issue 2, pp 147–153 | Cite as

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

  • Deepa Jagadish Muthugaduru
  • Chinmaya Sahu
  • Mohammad Javed Ali
  • Ashwin Dalal
  • Subhadra Jalali
Clinical Case Report



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


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.


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.


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.


Congenital Cataract Retinal Dystrophy Exotropia Microphthalmia Timolol Maleate 



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.


  1. 1.
    David LR, Finlon M, Genecov D, Argenta LC (1999) Hallermann- Streiff syndrome: experience with 15 patients and review of the literature. J Craniofac Surg 10:160–168PubMedCrossRefGoogle Scholar
  2. 2.
    Francois J (1958) A new syndrome: dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract. AMA Arch Ophthalmol 60:842–862PubMedCrossRefGoogle Scholar
  3. 3.
    Roulez FM, Schuil J, Meire FM (2008) Corneal opacities in the Hallerman-streiff syndrome. Ophthalmic Genet 29:61–66PubMedCrossRefGoogle Scholar
  4. 4.
    Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M (2008) International society for clinical electrophysiology of vision. ISCEV standard for full-field clinical electroretinography. Doc Ophthalmol 118:69–77PubMedCrossRefGoogle Scholar
  5. 5.
    Stewart DH 3rd, Streeten BW, Brockhurst RJ, Anderson DR, Hirose T, Gass DM (1991) Abnormal scleral collagen in nanophthalmos. an ultrastructural study. Arch Ophthalmol 109:1017–1025PubMedCrossRefGoogle Scholar
  6. 6.
    Cho WK, Park JW, Park MR (2011) Surgical Correction of Hallermann-Streiff Syndrome: a case report of Esotropia, Entropion, and Blepharoptosis. Korean J Ophthalmol 25:142–145PubMedCrossRefGoogle Scholar
  7. 7.
    Wolter JR, Jones DH (1965) Spontaneous cataract absorption in Hallermann-Streiff syndrome. Ophthalmologica 150:401–408PubMedCrossRefGoogle Scholar
  8. 8.
    Hopkins DJ, Horan EC (1970) Glaucoma in Hallerman Steriff Syndrome. Br J Ophthalmol 54:416–422PubMedCrossRefGoogle Scholar
  9. 9.
    Proenca H, Castanheira-Dinis A, Monteiro-Grillo M (2006) Bilateral nanophthalmos and pigmentary retinal dystrophy-an unusual syndrome. Graefes Arch Clin Exp Ophthalmol 244:1203–1205PubMedCrossRefGoogle Scholar
  10. 10.
    Pehere N, Jalali S, Deshmukh H, Kannabiran C (2011) Posterior microphthalmos pigmentary retinopathy syndrome. Doc Ophthalmol 122:127–132PubMedCrossRefGoogle Scholar
  11. 11.
    Adyanthaya R, Ying HS, Handa JT, Repka MX (2008) Macular retinal detachment in Hallerman Streiff Syndrome. Arch Ophthalmol 126:271–273PubMedCrossRefGoogle Scholar
  12. 12.
    Nishina SS, Suzuki Y, Azuma N (2008) Exudative retinal detachment following cataract surgery in Hallerman Steriff syndrome. Graefes Arch Clin Exp Ophthalmol 246:453–455PubMedCrossRefGoogle Scholar
  13. 13.
    Perlman I, Meyer E, Haim T, Zones S (1984) Retinal functions in high refractive errors assessed electroretinographically. Br J Ophthalmol 68:79–84PubMedCrossRefGoogle Scholar
  14. 14.
    Kim JW, Boes DA, Kinyoun JL (2004) Optical coherence tomography of bilateral posterior microphthalmos with papillomacular fold and novel features of retinoschisis and dialysis. Am J Ophthalmol 138:480–481PubMedCrossRefGoogle Scholar
  15. 15.
    Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B (2004) A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. Hum Mutat 23:286PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Deepa Jagadish Muthugaduru
    • 1
  • Chinmaya Sahu
    • 1
  • Mohammad Javed Ali
    • 2
  • Ashwin Dalal
    • 3
  • Subhadra Jalali
    • 1
  1. 1.Srimati Kannuri Santhamma Centre for Vitreoretinal diseasesL V Prasad Eye InstituteHyderabadIndia
  2. 2.Ophthalmic Plastics and Facial Aesthetic Surgery servicesL V Prasad Eye InstituteHyderabadIndia
  3. 3.Diagnostics DivisionCentre for DNA Fingerprinting and DiagnosticsHyderabadIndia

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