Doyne honeycomb retinal dystrophy
Findings
No curated finding names Doyne honeycomb retinal dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.
Definition from the Mondo Disease Ontology (MONDO:0007471), read 2026-09-29. CC BY 4.0.
Features
20 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 drusenHPOHP:0030499
- Obligate (100% of cases)
- Yellow/white macular lesionHPOHP:0030500
- Obligate (100% of cases)
- Macular dystrophyHPOHP:0007754
- Very frequent (80% to 99% of cases)
- Reticular pigmentary degenerationHPOHP:0007937
- Very frequent (80% to 99% of cases)
- Visual lossHPOHP:0000572
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Frequent (30% to 79% of cases)
- Hyperautofluorescent macular lesion
Show the remaining 8
- Granular macular appearanceHPOHP:0007793
- Occasional (5% to 29% of cases)
- Macular atrophyHPOHP:0007401
- Occasional (5% to 29% of cases)
- Macular hemorrhageHPOHP:0025574
- Occasional (5% to 29% of cases)
- Paracentral scotomaHPOHP:0030528
- Occasional (5% to 29% of cases)
- Peripapillary chorioretinal atrophyHPOHP:0007950
- Occasional (5% to 29% of cases)
- PhotophobiaHPOHP:0000613
- Occasional (5% to 29% of cases)
Genes
3 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.
- EFEMP1HGNC:3218
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Ambry Genetics · Autosomal dominant · 2024
- 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
- Limited · Ambry Genetics · Autosomal recessive · 2020
- CFHHGNC:4883
- Supportive · Orphanet · Autosomal dominant · 2021
- CFIHGNC:5394
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Doyne honeycomb retinal dystrophy
- Also called
- DHRDdominant drusendominant radial drusenDoyne honeycomb degeneration of retinaMalattia leventinese