1 Centro Hospitalar Baixo Vouga, Ophthalmology, Aveiro, Portugal
2 Centro Hospitalar de Lisboa Central, Ophthalmology, Lisboa, Portugal
3 Centro Hospitalar de Lisboa Central, Neuroradiology, Lisboa, Portugal
4 Oftalmologia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central, Lisboa, Portugal
- 2013 European Society of Ophthalmology Congress, June 8-11, 2013, Copenhagen, Denmark (poster)
Introduction: McCune-Albright syndrome (MAS) is characterized by the triad of polyostotic fibrous dysplasia, “café-au-lait” skin spots and autonomous hyperfunctional endocrinopathies. It is a rare disorder, which results from postzygotic activating mutations in the GNAS1 gene encoding the alpha subunit of the regulatory Gs protein. This disorder is of interest to Ophthalmology because compression of the optic nerve can occur from fibrous dysplasia of the canal.
Methods: The authors describe a case of a 9-year-old girl, born in Cabo Verde, with a history of pathologic fractures, bilateral varus genus and precocious puberty, referred to Pediatric Ophthalmology for clinical research in the context of MAS (mutation c.602G>A in the GNAS gene).
Results: On ophthalmologic examination, the BCVA was 9/10 in the RE and 10/10 in the LE, the pupillary reflexes were normal and there were no significant changes on fundoscopy. The VEP revealed increased P100 latency values. The contrast sensitivity test showed decreased values and the study of color vision was compatible with dyschromatopsia, suggesting dysfunction of the bilateral optic tract. The OCT showed decreased thickness of the temporal peripapillary RNFL in both eyes. The CT and MRI of the skull and orbits revealed aspects compatible with polyostotic fibrous dysplasia of the skull base and facial structures, stenosis of the superior and inferior orbital fissures and also of the optic canal, without apparent atrophy of nerve segments involved.
Conclusions: Despite the impairment of visual function and the significant craniofacial fibrous dysplasia, we opted for a conservative approach, because it was the first ophthalmologic examination of the patient, and there were no pathological injuries associated, which would make it more agressive. A 3-month follow-up seemed the best option of treatment in order to understand the evolution of visual compromise.