Documenta Ophthalmologica

, Volume 137, Issue 1, pp 25–36 | Cite as

Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT

  • Caterina TomaEmail author
  • Giulio Ruberto
  • Federico Marzi
  • Giulio Vandelli
  • Sabrina Signorini
  • Enza Maria Valente
  • Mauro Antonini
  • Chiara Bertone
  • Paolo Emilio Bianchi
Clinical Case Report



Joubert syndrome (JS) is an inherited autosomal recessive or X-lined disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features. It is estimated that retinal dystrophy is present in association with the typical neurological findings in about one-third of the patients. The aim of this study is to better characterize the macular region in JS patients with and without retinal dystrophy.


We describe six individuals affected by JS as demonstrated by the presence of the typical “molar tooth sign” on MRI. The presence of retinal dystrophy was assessed by fundus examination and electrophysiology by means of full-field electroretinogram (ERG) and visual evoked potentials (VEP) at five spatial frequencies (300–15 min of arc). The macular region was examined with spectral domain optical coherence tomography (SD-OCT). All the exams were performed in awake conditions. All the patients underwent next-generation-sequencing analysis of known JS genes.


Pathogenic biallelic variants in either the INPP5E gene or the AHI1 gene were detected in two pairs of siblings, all positive for retinal dystrophy. Genetic testing yielded no results in the remaining two patients, one with bilateral coloboma and retinal dystrophy and the other with normal fundus appearance. Decimal best-corrected visual acuity was between 0.1 and 1.0. In the two pairs of siblings, SD-OCT revealed a posterior staphyloma centred on the fovea, in one case associated with cystoid macular oedema. Macular morphology was just slightly altered in the fifth patient and completely normal in the last patient. Refractive error was between + 2.50 diopter sphere (DS) and − 8 DS and − 4 diopter cylinder ax 45°. ERG waves were markedly lower than the normal limits in both scotopic and photopic components in the two pairs of siblings and in the fifth subject, with VEP P100 latencies and amplitudes delayed and reduced in all spatial frequencies. ERG and VEP were within normal limits in the last patient.


To our knowledge, macular staphyloma has not been described before in JS. Further work is warranted to assess the true prevalence of staphyloma in JS and its connection to retinal dystrophy.


Joubert syndrome Retinal dystrophy Spectral domain-OCT Macular staphyloma 



The authors thank Dr. Anna Picchiecchio for her careful analysis of MRI images used for patient diagnosis.

Compliance with ethical standards

Conflict of interest

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.

Ethical standard

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Patient consent

The patients have consented to the submission of the manuscript for this journal.

Statement of human rights

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Statement on the welfare of animals

This article does not contain any studies with animals performed by any of the authors.

Supplementary material

10633_2018_9646_MOESM1_ESM.docx (1.1 mb)
Supplementary material 1 (DOCX 1111 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Caterina Toma
    • 1
    Email author
  • Giulio Ruberto
    • 1
  • Federico Marzi
    • 1
  • Giulio Vandelli
    • 1
  • Sabrina Signorini
    • 2
  • Enza Maria Valente
    • 3
    • 4
  • Mauro Antonini
    • 2
  • Chiara Bertone
    • 1
  • Paolo Emilio Bianchi
    • 1
  1. 1.Department of OphthalmologyIRCCS Policlinico San MatteoPaviaItaly
  2. 2.Department of Child Neurology and PsychiatryIRCCS C. MondinoPaviaItaly
  3. 3.Department of Molecular MedicineUniversity of PaviaPaviaItaly
  4. 4.IRCCS Santa Lucia FoundationRomeItaly

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