OMIA:002976-9541 : Macular dystrophy, BEST1-related in Macaca fascicularis (crab-eating macaque) |
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607854 (gene) , 153700 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: unknown
Key variant known: no
Year key variant first reported: 2025
Cross-species summary: See also BEST1-related multifactorial retinopathy in dogs: OMIA:001444-9615: Multifocal retinopathy 1 in Canis lupus familiaris (dog), OMIA:001553-9615: Multifocal retinopathy 2 in Canis lupus familiaris (dog), OMIA:001554-9615: Multifocal retinopathy 3 in Canis lupus familiaris (dog).
Molecular basis: Yi et al. (2025) "report a Macaca fascicularis carrying a heterozygous potential pathogenic BEST1p.Q327E variant that disrupts the BEST1 ion channel by destabilizing the A195 helix, mirroring the structural perturbations seen in certain human pathological mutants."
Clinical features: Yi et al. (2025): "Longitudinal imaging over 2 years revealed progressive macular changes, including subfoveal cleft enlargement, lipid-rich deposit accumulation, retinal pigment epithelium (RPE) disruption, and central-to-peripheral photoreceptor degeneration ... ."
Pathology: Yi et al. (2025): "Histopathology demonstrated diminished BEST1 expression, attenuation of the RPE-photoreceptor interface, and 2 distinct types of lipid deposits, including heretofore unappreciated cone mitochondrial-enriched lesions, highlighting selective cone mitochondria vulnerability."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| BEST1 | bestrophin 1 | Macaca fascicularis | 14 | NC_088388.1 (12038126..12022181) | BEST1 | Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1822 | Macular dystrophy | BEST1 | substitution | missense | Naturally occurring variant | Not currently evaluated | Macaca_fascicularis_5.0 | 14 | NC_022285.1:g.12255587G>C | XM_015434136.1:c.979C>G | XP_015289622.1:p.(Q327E) | 2025 | 40327408 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
If you notice anything missing or in need of change, please contact us at: [email protected].
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002976-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Yi, W., Xu, M., Xue, Y., Cao, Y., Yang, Z., Zhou, L., Zhou, Y., Shi, L., Mai, X., Sun, Z., Qing, W., Li, Y., Qing, A., Zhang, K., Ou, L., Chen, S., Duh, E.J., Liu, X. : |
| A spontaneous nonhuman primate model of inherited retinal degeneration. JCI Insight 10:e190807, 2025. Pubmed reference: 40327408. DOI: 10.1172/jci.insight.190807. |
Edit History
- Created by Imke Tammen2 on 04 Aug 2025
- Changed by Imke Tammen2 on 04 Aug 2025