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Condition report · Ophthalmological

PROM1-Related Recessive Retinopathy

An inherited retinal condition causing early and progressive loss of central and then side vision. It is caused by changes in both copies of the PROM1 gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of PROM1 (prominin-1). Recessive variants cause a more severe panretinal dystrophy than dominant PROM1 variants, which mainly affect the macula.

Signs and symptoms

Reduced vision with early macular involvement and panretinal dystrophy is typical in the recessive form, and a severe form of recessive retinitis pigmentosa has been described.

What a diagnosis changes

Regular eye review, low-vision aids and educational support. Carrier testing of relatives and genetic counselling are available.

Genes analysed

Includes 1 related subtype ↓
  • retinitis pigmentosa 41
MONDO:1040052Sources: [1][2]

Limitations

  • A different PROM1 change in one copy causes a dominant, milder macular dystrophy, which is not the focus of this report.

References

  1. Lee IJ, Abbey C, Leys M, 2022. Clinical Characterization of Autosomal Dominant and Autosomal Recessive PROM1 Mutation With a Report of Novel Mutation. Ophthalmic surgery, lasers & imaging retina
  2. Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX et al., 2010. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Investigative ophthalmology & visual science

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