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Gene Review:

CYMD - cystoid macular dystrophy

Homo sapiens

Synonyms: DCMD, MDDC

Schulz, H.L. et al., Pinckers, A. et al., Bächner, D. et al., Pinckers, A. et al., Inglehearn, C. et al., et al.

Bächner, Schröder, Gross,

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Disease relevance of CYMD

As the gene coding for human GPNMB was localized to chromosome 7p15, a locus involved in the human inherited disease cystoid macular edema, also known as dominant cystoid macular dystrophy (OMIM 153880) we highly suggest that GPNMB is a candidate gene for this human inherited disease [1].

High impact information on CYMD

Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic [2].
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p [3].
In this report we present the characterization of the C7orf9 gene locus encoding RFamide-related peptides (RFRPs) and its evaluation in dominant cystoid macular dystrophy (CYMD) [4].
Acetazolamide in dominant cystoid macular dystrophy. A pilot study [5].
Eight patients (four men, four women), with low visual acuity caused by autosomal dominant cystoid macular dystrophy, were treated daily with oral 250 mg dose acetazolamide [5].

Biological context of CYMD

RESULTS: The C7orf9 cDNA transcript consists of 1190 bp and is organized into 3 exons on the short arm of chromosome 7 within the critical region for CYMD [4].

Associations of CYMD with chemical compounds

1. Conclusion: Treatment with 250 mg acetazolamide appears not to be an effective therapy for cystoid macular oedema in dominant cystoid macular dystrophy [5].

Other interactions of CYMD

Results of our comprehensive mutation analysis suggests that C7orf9 is not the CYMD gene [4].

Analytical, diagnostic and therapeutic context of CYMD

C7orf9 was evaluated as a candidate gene for CYMD by DNA sequencing and Southern blot analysis in two affected individuals from an extended Dutch CYMD family [4].
The electro-oculogram (EOG) was studied in 156 normal patients, 103 patients with Best's disease, and 52 patients with dominant cystoid macular dystrophy (DCMD) [6].

References

mRNA expression of the murine glycoprotein (transmembrane) nmb (Gpnmb) gene is linked to the developing retinal pigment epithelium and iris. Bächner, D., Schröder, D., Gross, G. Brain Res. Gene Expr. Patterns (2002) [Pubmed]
Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic. Inglehearn, C., Keen, T.J., al-Maghtheh, M., Bhattacharya, S. Am. J. Hum. Genet. (1994) [Pubmed]
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. Kremer, H., Pinckers, A., van den Helm, B., Deutman, A.F., Ropers, H.H., Mariman, E.C. Hum. Mol. Genet. (1994) [Pubmed]
Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy. Schulz, H.L., Stoehr, H., White, K., van Driel, M.A., Hoyng, C.B., Cremers, F., Weber, B.H. Mol. Vis. (2002) [Pubmed]
Acetazolamide in dominant cystoid macular dystrophy. A pilot study. Pinckers, A., Cruysberg, J.R., Kremer, H., Aandekerk, A.L. Ophthalmic paediatrics and genetics. (1993) [Pubmed]
The EOG in Best's disease and dominant cystoid macular dystrophy (DCMD). Pinckers, A., Cuypers, M.H., Aandekerk, A.L. Ophthalmic Genet. (1996) [Pubmed]

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