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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.
Features include: Reticular pigmentary degeneration, Visual impairment, and Retinal dystrophy.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Visual impairment, Retinal dystrophy |
EFEMP1 encodes EGF-like fibulin extracellular matrix protein 1 (493 aa). Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. Highest expression in Artery Aorta (1,496 TPM) and Artery Coronary (856.1 TPM).
Doyne honeycomb retinal dystrophy is caused by mutations in the EFEMP1 gene on chromosome 2.
EFEMP1 is classified as a druggable target (Druggable Genome and Growth Factor categories) with score 0.0.
Genetic testing for EFEMP1 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Doyne honeycomb retinal dystrophy.
13 publications have been identified in PubMed for Doyne honeycomb retinal dystrophy. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (23%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 5 | 38% |
Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 8:24 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Doyne honeycomb retinal dystrophy
Patient case studies
3 |
23% |
Laboratory research | 2 | 15% |
Disease patterns and progression | 2 | 15% |
Clinical study results | 1 | 8% |
Zhang P (2026). [PMID: 41834303](https://pubmed.ncbi.nlm.nih.gov/41834303/). *Ophthalmic genetics*. [Basic Science / Preclinical]
Ortega AJ (2025). [PMID: 41198612](https://pubmed.ncbi.nlm.nih.gov/41198612/). *Cell death & disease*. [Case Report / Case Series]
Chacon-Camacho OF (2025). [PMID: 39264138](https://pubmed.ncbi.nlm.nih.gov/39264138/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Shakeel A (2025). [PMID: 41971199](https://pubmed.ncbi.nlm.nih.gov/41971199/). *Rom J Ophthalmol*. [Case Report / Case Series]
Ehrenzeller C (2025). [PMID: 39841918](https://pubmed.ncbi.nlm.nih.gov/39841918/). *Retina (Philadelphia, Pa.)*. [Review / Meta-Analysis]
Charbel Issa P (2025). [PMID: 39820891](https://pubmed.ncbi.nlm.nih.gov/39820891/). *Klinische Monatsblatter fur Augenheilkunde*. [Review / Meta-Analysis]
Hartung KJ (2025). [PMID: 40736820](https://pubmed.ncbi.nlm.nih.gov/40736820/). *Advances in experimental medicine and biology*. [Epidemiology / Natural History]
Wood AJ (2025). [PMID: 40640104](https://pubmed.ncbi.nlm.nih.gov/40640104/). *Ophthalmic genetics*. [Review / Meta-Analysis]
Georgiou M (2024). [PMID: 38278208](https://pubmed.ncbi.nlm.nih.gov/38278208/). *Progress in retinal and eye research*. [Review / Meta-Analysis]
DiCesare SM (2024). [PMID: 39114980](https://pubmed.ncbi.nlm.nih.gov/39114980/). *JCI insight*. [Basic Science / Preclinical]