late-onset retinal degeneration
Findings
No curated finding names late-onset retinal degeneration yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.
Definition from the Mondo Disease Ontology (MONDO:0011579), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
26 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 best corrected visual acuity testHPOHP:0030534
- Very frequent (80% to 99% of cases)
- Chorioretinal atrophyHPOHP:0000533
- Frequent (30% to 79% of cases)
- Choroidal neovascularizationHPOHP:0011506
- Frequent (30% to 79% of cases)
- DrusenHPOHP:0011510
- Frequent (30% to 79% of cases)
- Macular degenerationHPOHP:0000608
- Frequent (30% to 79% of cases)
- NyctalopiaHPO
Genes
1 gene
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.
- C1QTNF5HGNC:14344
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: late-onset retinal degeneration
- Also called
- autosomal dominant late-onset retinal degenerationLORD