CASE REPORT
A 57‐year‐old woman presented with vision loss and distorted vision primarily in the left eye at age of 47. Corrected visual acuity was reduced by 0.8/0.5 cc, respectively. On the left eye, metamorphopsia was reported using an Amsler grid.
Ophthalmological examination revealed radially oriented massive hard drusen partly coalescent on both eyes in the macular region and nasal to the disc as well as macular hyperpigmentation.
Optical coherence tomography (OCT) on both eyes shows foveal drusen and retinal atrophy on the left eye. Fluorescein angiography (FLU‐A) and indocyanine green angiography (ICG‐A) showed no signs of secondary CNVs.
The patient was clinically diagnosed with Doyne Honeycomb Retinal Dystrophy.
Doyne Honeycomb Retinal Dystrophy entity
Doyne Honeycomb Retinal Dystrophy, also known as Malattia Leventinese or Familial Dominant Drusen, all refer to the same genetic inherited retinal dystrophy characterized by an autosomal dominant mutation in the EFEMP1 gene in which patients develop early onset macular and peripapillary drusen that are often oriented radially.
Doyne Honeycomb Retinal Dystrophy (DHRD) was first described phenotypically by Doyne in 1899 in four sisters in England. He found that each had an early onset retinal dystrophy with closely grouped white lesions in the macula and disc area which he termed the “Honeycomb” pattern.
Doyne Honeycomb Retinal Dystrophy management
Currently, there are no genetic or targeted therapies to correct the underlying EFEMP1 genetic mutation in DHRD. Typically, patients with DHRD are managed conservatively with observation, unless a CNVM develops.
CNVM in DHRD is typically treated with intravitreal anti-VEGF injections. Anti-VEGF injections such as Bevacizumab have been shown to improve vision and resolve subretinal fluid.
Another treatment option is the use of lasers to clear drusen deposits. One study showed that low-energy argon laser treatment improved visual acuity and retinal sensitivity, and decreased drusen volume.
Additionally, another case report showed functional improvement using a sub-threshold retinal laser in a patient with DHRD.
Patients with a confirmed EFEMP1 mutation should have their children screened for involvement. Annual follow-up with OCT imaging in patients without CNVM is recommended.
Would you have interest in taking retina images by smartphone?
Fundus photography is superior to fundus analysis as it enables intraocular pathologies to be photo-captured and encrypted information to be shared with colleagues and patients.
Recent technologies allow smartphone-based attachments and integrated lens adaptors to transform the smartphone into a portable fundus camera and Retinal imaging by smartphone.
RETINAL IMAGING BY YOUR SMARTPHONE
REFERENCES
- Doyne, R.W. Peculiar condition of choroiditis occurring in several members of the same family. Trans. Ophthalmol. Soc. UK 19, 71 –71 (1899).
- Vogt, A. in Handbuch der gesammten Augenheilkunde. Untersuchungsmethoden (eds Graefe, A. & Saemisch, T.) 1–118 (Verlag von Wilhelm Engelman, Berlin, 1925).
- Héon, Elise, et al. “Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.” Archives of ophthalmology 114.2 (1996): 193-198.
- Gregory, Cheryl Y., et al. “The gene responsible for autosomal dominant Doyne’s honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16.” Human molecular genetics 5.7 (1996): 1055-1059.
- Stone, Edwin M., et al. “A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.” Nature genetics 22.2 (1999): 199-202.
- Fu, Li, et al. “The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.” Human molecular genetics 16.20 (2007): 2411-2422.
RETINAL IMAGING BY YOUR SMARTPHONE
RETINAL IMAGING BY YOUR SMARTPHONE
