# Sunken eyes as a peculiar finding in neuronal ceroid lipofuscinoses

**Authors:** Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, João Victor Cabral Correia Férrer, Thiago Yoshinaga Tonholo Silva, Flávio Moura de Rezende Filho, José Luiz Pedroso, Orlando Graziani Povoas Barsottini

PMC · DOI: 10.1055/s-0046-1815957 · Arquivos de Neuro-Psiquiatria · 2026-02-27

## Full-text entities

- **Genes:** TPP1 (tripeptidyl peptidase 1) [NCBI Gene 1200] {aka CLN2, GIG1, LPIC, SCAR7, TPP-1}
- **Diseases:** olivopontocerebellar atrophy (MESH:D009849), seizures (MESH:D012640), neurodegenerative disorders (MESH:D019636), lysosomal dysfunction (MESH:D016464), cognitive decline (MESH:D003072), motor impairment (MESH:D000068079), malnutrition (MESH:D044342), ataxia (MESH:D001259), Neuronal ceroid lipofuscinoses (MESH:D009472)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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## References

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Source: https://tomesphere.com/paper/PMC12971269