Alternative titles; symbols
SNOMEDCT: 193387007; ORPHA: 75381; DO: 4447;
Cytogenetic location: 7p21-p15 Genomic coordinates (GRCh38): 7:7,200,001-28,800,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 7p21-p15 | Macular dystrophy, dominant cystoid | 153880 | Autosomal dominant | 2 |
Dominant cystoid macular dystrophy (DCMD) is a progressive retinal dystrophy characterized primarily by early-onset cystoid fluid collections in the neuroretina (summary by Saksens et al., 2015).
Deutman et al. (1976) described autosomal dominant inheritance of cystoid macular edema due to leaking perimacular capillaries. Other striking features were retinal capillary leakage all over the posterior pole of the eye, whitish punctate deposits in the vitreous, a normal electroretinogram, and moderate to high hyperopia. In more advanced stages the macula developed a central zone of 'beaten bronze' atrophy. Strabismus occurred frequently. Patients were referred to ophthalmologists in their second decade because of diminishing visual acuity.
Fishman et al. (1979) reported DCMD in a family of Greek origin.
Pinckers et al. (1983) reviewed data on 56 patients from 5 or 6 seemingly separate Dutch families described by Deutman et al. (1976) and Pinckers et al. (1976) and showed that all of the families had a common ancestor, who supposedly lived in the early 18th century. The early-onset cystoid macular edema resulted in macular atrophy and sometimes in pericentral retinitis pigmentosa. Peripheral pigmentary changes and fluorescein leakage from peripheral vessels were not uncommon. Hyperopia, shortened axial length, and normal corneal curvature were the rule.
Saksens et al. (2015) presented clinical and long-term follow-up of 97 patients from the large Dutch pedigree with DCMD reported by Pinckers et al. (1983). Cystoid fluid collections (CFCs) were the first retinal abnormalities detectable and developed during childhood. At long-term follow-up, the CFCs had decreased in size and number, eventually disappearing with concurrent development of progressive chorioretinal atrophy and hyperpigmented deposits in the posterior pole. Saksens et al. (2015) classified DCMD into 3 stages based on age and visual acuity. In stage 1, patients were generally younger than 20 years, with mean visual acuity of 20/37, and had CFCs with fine folding of the internal limiting membrane and mild pigment changes. In stage 2, patients had mean visual acuity of 20/52; the CFCs tended to decrease in size, and moderate macular chorioretinal atrophy developed. In stage 3, patients were generally older than 50 years and had mean visual acuity of 20/212, and their maculae showed profound chorioretinal atrophy as well as coarse hyperpigmented deposits in the posterior pole. Most patients (92%) were highly hyperopic.
Using the dinucleotide marker D7S435 in the large Dutch family with DCMD described by Pinckers et al. (1983), Kremer et al. (1994) detected linkage of the disorder to 7p. With flanking markers, they assigned the locus to the interval 7p21-p15, which spans approximately 20 cM. Since a retinitis pigmentosa locus (called by them RP7 but referred to here as RP9; 180104) maps to roughly the same area, it was suggested that these may be allelic disorders. However, Inglehearn et al. (1994) showed by linkage analysis that the DCMD locus maps at a distance of approximately 10 cM from the RP9 locus.
By haplotype analysis in the large Dutch family with DCMD described by Pinckers et al. (1983), Saksens et al. (2015) mapped the disease locus to 7p15.3.
Deutman, A. F., Pinckers, A. J. L., Aan de Kerk, A. L. Dominantly inherited cystoid macular edema. Am. J. Ophthal. 82: 540-548, 1976. [PubMed: 970419] [Full Text: https://doi.org/10.1016/0002-9394(76)90540-7]
Fishman, G. A., Goldberg, M. F., Trautmann, J. C. Dominantly inherited cystoid macular edema. Ann. Ophthal. 11: 21-27, 1979. [PubMed: 420475]
Inglehearn, C., Keen, T. J., Al-Maghtheh, M., Bhattacharya, S. Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic. (Letter) Am. J. Hum. Genet. 55: 581-582, 1994. [PubMed: 8079997]
Kremer, H., Pinckers, A., van den Heim, B., Deutman, A. F., Ropers, H.-H., Mariman, E. C. M. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Hum. Molec. Genet. 3: 299-302, 1994. [PubMed: 8004098] [Full Text: https://doi.org/10.1093/hmg/3.2.299]
Notting, J. G. A., Pinckers, A. J. L. G. Dominant cystoid macular dystrophy. Am. J. Ophthal. 83: 234-241, 1977. [PubMed: 836665] [Full Text: https://doi.org/10.1016/0002-9394(77)90622-5]
Pinckers, A., Deutman, A. F., Lion, F., Aan de Kerk, A. L. Dominant cystoid macular dystrophy (DCMD). Ophthalmic Paediat. Genet. 3: 157-167, 1983.
Pinckers, A., Deutman, A. F., Notting, J. G. Retinal functions in dominant cystoid macular dystrophy (DCMD). Acta Ophthal. (Copenh) 54: 579-590, 1976. [PubMed: 990013] [Full Text: https://doi.org/10.1111/j.1755-3768.1976.tb01287.x]
Saksens, N. T. M., van Huet, R. A. C., van Lith-Verhoeven, J. J. C., den Hollander, A. I., Hoyng, C. B., Boon, C. J. F. Dominant cystoid macular dystrophy. Ophthalmology 122: 180-191, 2015. [PubMed: 25267528] [Full Text: https://doi.org/10.1016/j.ophtha.2014.07.053]