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Condition report · Ophthalmological

IMPG1-Related Retinopathy

A rare inherited form of retinitis pigmentosa, in which the light-sensing cells of the retina gradually stop working. It is caused by changes in IMPG1, which supports the photoreceptors, in one or both copies of the gene.

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The condition we analyse

Autosomal recessive

Caused by changes in IMPG1, which encodes a proteoglycan of the matrix surrounding photoreceptors. Changes in one copy and in both copies have been linked to retinitis pigmentosa, and single changes can also cause vitelliform macular dystrophy.

Signs and symptoms

Night blindness followed by gradual loss of side (peripheral) vision, typical of retinitis pigmentosa. Some people with IMPG1 changes have early macular involvement, or develop a macular dystrophy (vitelliform or pattern dystrophy) instead. Age at onset and rate of progression vary.

What a diagnosis changes

Regular eye assessment, low-vision aids and support services help with daily life. Genetic counselling is offered, and carrier testing of relatives depends on the inheritance pattern in the family.

Genes analysed

Includes 1 related subtype ↓
  • vitelliform macular dystrophy 4
MONDO:1040037Sources: [1][2][3]

References

  1. Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G et al., 2022. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa. Journal of medical genetics
  2. Al-Khuzaei S, Shalaby AK, Yu J, Shanks M, Clouston P, MacLaren RE et al., 2025. Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy. Genes
  3. Brandl C, Schulz HL, Charbel Issa P, Birtel J, Bergholz R, Lange C et al., 2021. Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions. Genes

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