Sorsby fundus dystrophy
Findings
No curated finding names Sorsby fundus dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
Definition from the Mondo Disease Ontology (MONDO:0007640), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
17 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.
- Macular dystrophyHPOHP:0007754
- Very frequent (80% to 99% of cases)
- Subretinal depositsHPOHP:0031528
- Very frequent (80% to 99% of cases)
- Visual lossHPOHP:0000572
- Very frequent (80% to 99% of cases)
- Yellow/white macular lesionHPOHP:0030500
- Very frequent (80% to 99% of cases)
- Abnormal choroid morphologyHPOHP:0000610
- Frequent (30% to 79% of cases)
- Abnormal fundus autofluorescence imagingHPOHP:0030602
- Frequent (30% to 79% of cases)
Show the remaining 5
- Chorioretinal atrophyHPOHP:0000533
- Occasional (5% to 29% of cases)
- Pigmentary retinopathyHPOHP:0000580
- Occasional (5% to 29% of cases)
- Retinal atrophyHPOHP:0001105
- Occasional (5% to 29% of cases)
- Retinal pigment epithelial atrophyHPOHP:0007722
- Occasional (5% to 29% of cases)
- Severely reduced visual acuityHPOHP:0001141
- Occasional (5% to 29% of cases)
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.
- TIMP3HGNC:11822
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: Sorsby fundus dystrophy
- Also called
- SFD