# Rare disease day and Ophthalmology

**Authors:** Mariana Matioli da Palma, Cecilia Francini Cabral de Vasconcellos, Juliana Maria Ferraz Sallum

PMC · DOI: 10.5935/0004-2749.202100106 · Arquivos Brasileiros de Oftalmologia · 2021-07-01

## Full-text entities

- **Genes:** RPE65 (retinoid isomerohydrolase RPE65) [NCBI Gene 6121] {aka BCO3, LCA2, RP20, mRPE65, p63, rd12}
- **Diseases:** cancer (MESH:D009369), infectious diseases (MESH:D003141), chorioretinal atrophy (MESH:C566236), autoimmune diseases (MESH:D001327), genetic disorders (MESH:D030342), Renal abnormality (MESH:D007674), Mucopolysaccharidoses (MESH:D009083), photophobia (MESH:D020795), metabolic disorders (MESH:D008659), Rare Disease (MESH:D035583), vision difficulties (MESH:D014786), end-stage renal disease (MESH:D007676), Retinoblastoma (MESH:D012175), renal involvement (MESH:C565423), nephronophthisis (MESH:C537699), corneal clouding (MESH:C535990), IRD (MESH:D058499), retinitis pigmentosa (MESH:D012174), Leber congenital amaurosis (MESH:D057130), ocular syndrome (MESH:D015817), congenital glaucoma (MESH:C565547), retinal cancer (MESH:D019572), Congenital cataracts (MESH:D002386), inherited eye diseases (MESH:D015785), congenital Zika virus syndrome (MESH:D000071243), Senior-Loken (MESH:C537580), renal failure (MESH:D051437), nyctalopia (MESH:D009755), ocular diseases (MESH:D005128), blindness (MESH:D001766)
- **Chemicals:** Luxturna (-)
- **Species:** Zika virus (no rank) [taxon 64320], Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

7 references — full list in the complete paper: https://tomesphere.com/paper/PMC11826610/full.md

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Source: https://tomesphere.com/paper/PMC11826610