severe early-childhood-onset retinal dystrophy
Findings
No curated finding names severe early-childhood-onset retinal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy.
Definition from the Mondo Disease Ontology (MONDO:0009549), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
40 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.
- Reduced visual acuityHPOHP:0007663
- 15 of 15 reported patients
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- Dark choroidHPOHP:0025148
- 64 of 103 reported patients
- Abnormal macular morphologyHPOHP:0001103
- Frequent (30% to 79% of cases)
- Abnormal pupillary light reflexHPOHP:0007695
- Frequent (30% to 79% of cases)
- Abnormal retinal pigmentation
Genes
6 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.
- ABCA4HGNC:34
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- LCA5HGNC:31923
- Supportive · Orphanet · Autosomal recessive · 2021
- LRATHGNC:6685
- Supportive · Orphanet · Autosomal recessive · 2021
- RPE65HGNC:10294
- Supportive · Orphanet · Autosomal recessive · 2021
- SPATA7HGNC:20423
Where it sits
Other names
4 names
Resolves to: severe early-childhood-onset retinal dystrophy
- Also called
- early-onset severe retinal dystrophyEOSRDSECORDStargardt disease type 1