Journal of Molecular Neuroscience

, Volume 67, Issue 3, pp 441–444 | Cite as

Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFB

  • Rayssa Leal Borges-Medeiros
  • Laura Durão Ferreira
  • João Ricardo Mendes de OliveiraEmail author


Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by symmetrical and bilateral brain calcification. It is typically inherited as an autosomal dominant disorder, and de novo variants have also been described. Interestingly, just recent studies have reported the first autosomal recessive PFBC-causative gene. PFBC patients exhibit high clinical heterogeneity including Parkinsonism, dystonia, ataxia, depression, and migraine. Mice studies, an important research tool, have been a breakthrough in increasing the understanding of PFBC’s main signs and symptoms, and many findings reported in these mice have been subsequently reported in patients. One phenotype that has been observed in PFBC mice models but not in PFBC patients, however, is the development of ophthalmic abnormalities. This way, this report focused on performing an ophthalmic assessment in six Brazilian patients genetically diagnosed with PFBC. The assessments showed that none of the PFBC individuals included presented any of the ophthalmic abnormalities reported in mice models, such as cataracts, ocular calcification, abnormal iris and lens morphology, and retinal deterioration. Additionally, of the six PFBC patients described, two SLC20A2 mutation carriers showed physiological excavation of the optic nerve head and partial vitreous detachment, while just one individual presented bilateral narrowing of retinal arterioles. In summary, no evidence of similar ophthalmological abnormalities found in mice were found in our patients; nonetheless, further studies in larger sample size are warranted to corroborate with our findings. To our knowledge, this study is the first to focus on investigating, in PFBC patients, the ophthalmological phenotypes described in the PFBC mice models.


Brain calcification SLC20A2 PDGFB Eye globe 



The contributions of the authors to this letter were financially supported by CNPq, Brazil.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Supplementary material

12031_2018_1250_MOESM1_ESM.pdf (497 kb)
Supplementary Fig. 1 Color (left column) and red-free (right column) fundus photography from both eyes of patient F showing no retina abnormalities (PDF 496 kb)
12031_2018_1250_MOESM2_ESM.pdf (155 kb)
Supplementary Fig. 2 Axial brain CT scan of a non-PFBC control showing no ocular abnormalities (lens image was not available) (PDF 155 kb)


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Keizo Asami LaboratoryUniversidade Federal de PernambucoRecifeBrazil
  2. 2.Neuropsychiatric DepartmentUniversidade Federal de PernambucoRecifeBrazil

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