fundus albipunctatus
Findings
No curated finding names fundus albipunctatus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.
Definition from the Mondo Disease Ontology (MONDO:0007639), read 2026-09-29. CC BY 4.0.
Genes
4 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.
- RDH5HGNC:9940
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- PRPH2HGNC:9942
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- RLBP1HGNC:10024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- RHOHGNC:10012
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
1 name
Resolves to: fundus albipunctatus
- Also called
- pigmentary retinal dystrophy