Assessment of the Phenotypic Range Seen in Doyne Honeycomb Retinal Dystrophy
Kevin Evans, MD;
Cheryl Y. Gregory, PhD;
Sujeewa D. Wijesuriya, PhD;
Sana Kermani;
Marcelle R. Jay, PhD;
Catherine Plant;
Alan C. Bird, MD
Arch Ophthalmol. 1997;115(7):904-910.
Abstract
| |
Objective
Using molecular genetics as the basis for diagnosis, to assess the phenotype in the family originally described as having dominantly inherited Doyne honeycomb retinal dystrophy (DHRD) linked to chromosome 2p16.
Design
Clinical examination including fluorescein angiography was undertaken in 107 family members. Nine affected patients underwent electroretinography, perimetry, dark adaptometry, color-contrast sensitivity measurement, and autofluorescent fundus imaging.
Patients
The disease-associated haplotype used to allocate disease status was based on our further refinement of the DHRD locus to between loci D2S2739 and D2S378. The study identified 50 affected patients. In addition, previously published information on a further 8 individuals was used. The study population represented 6 generations of a 9-generation pedigree.
Results
Three types of deposits were seen: large, soft drusen at the macula and abutting the optic nerve head; small, hard deposits that in some patients radiated from the macula; and autofluorescent deposits. Most younger affected individuals exhibited small hard drusen only at the macula and had normal visual function. Information on 2 patients suggested that DHRD can be a cause of childhood-onset blindness. Advanced disease was associated with severe visual loss and posterior pole atrophy without signs of drusen. Advanced age was not invariably associated with severe visual loss.
Conclusions
Previously identified characteristics of DHRD were confirmed and new features identified. Contrary to previous reports, the constancy and severity of radial (basal laminar) drusen seen clinically are the only features that can be used to differentiate between DHRD and malattia leventinese. The highly variable phenotype suggests that the influence of the DHRD-mutant gene may be modulated by other genetic and/or environmental factors.
Author Affiliations
From the Departments of Clinical Ophthalmology (Drs Evans, Jay, and Bird and Ms Plant) and Molecular Genetics (Drs Gregory and Wijesuriya and Ms Kermani), Institute of Ophthalmology and Moorfields Eye Hospital, London, England.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
|
Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration
Borooah et al.
Postgrad. Med. J. 2009;85:495-500.
ABSTRACT
| FULL TEXT
Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration
Borooah et al.
Br J Ophthalmol 2009;93:284-289.
ABSTRACT
| FULL TEXT
Maculopathy Due to the R345W Substitution in Fibulin-3: Distinct Clinical Features, Disease Variability, and Extent of Retinal Dysfunction.
Michaelides et al.
IOVS 2006;47:3085-3097.
ABSTRACT
| FULL TEXT
Indocyanine green angiography features of malattia leventinese.
Souied et al.
Br J Ophthalmol 2006;90:296-300.
ABSTRACT
| FULL TEXT
Transcriptional Regulation and Expression of the Dominant Drusen Gene FBLN3 (EFEMP1) in Mammalian Retina
Blackburn et al.
IOVS 2003;44:4613-4621.
ABSTRACT
| FULL TEXT
Late-Onset Autosomal Dominant Macular Dystrophy with Choroidal Neovascularization and Nonexudative Maculopathy Associated with Mutation in the RDS Gene
Khani et al.
IOVS 2003;44:3570-3577.
ABSTRACT
| FULL TEXT
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration
Marmorstein et al.
Proc. Natl. Acad. Sci. USA 2002;99:13067-13072.
ABSTRACT
| FULL TEXT
Molecular genetic heterogeneity in autosomal dominant drusen
Tarttelin et al.
J. Med. Genet. 2001;38:381-384.
ABSTRACT
| FULL TEXT
|
