nanophthalmia
Findings
No curated finding names nanophthalmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
Definition from the Mondo Disease Ontology (MONDO:0005514), read 2026-09-29. CC BY 4.0.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal choroid morphologyHPOHP:0000610
- Very frequent (80% to 99% of cases)
- GlaucomaHPOHP:0000501
- Very frequent (80% to 99% of cases)
- High hypermetropiaHPOHP:0008499
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Occasional (5% to 29% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BEST1HGNC:12703
- Supportive · Orphanet · Autosomal dominant · 2021
- CRB1HGNC:2343
- Supportive · Orphanet · Autosomal dominant · 2021
- MFRPHGNC:18121
- Supportive · Orphanet · Autosomal dominant · 2021
- PRSS56HGNC:39433
- Supportive · Orphanet · Autosomal dominant · 2021
- TMEM98HGNC:24529
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (4)