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Condition report · Ophthalmological

TTLL5-Related Retinopathy

An inherited retinal condition causing gradual loss of central and colour vision, often beginning in adulthood. It is caused by changes in both copies of the TTLL5 gene, which also affects sperm movement in some men.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of TTLL5, an enzyme that modifies the tubulin skeleton of cilia, including the connecting cilium of photoreceptors and the sperm tail.

Signs and symptoms

Gradual loss of central vision and colour vision from a cone or cone-rod dystrophy, often starting in adulthood, although some people have early-onset disease. Some men with certain changes have reduced fertility because their sperm move poorly.

What a diagnosis changes

Regular eye review and low-vision support, with fertility advice for men where needed. Carrier testing of relatives and genetic counselling are available.

Genes analysed

Includes 1 related subtype ↓
  • cone-rod dystrophy 19
MONDO:1040038Sources: [1][2][3]

References

  1. Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G et al., 2014. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. American journal of human genetics
  2. Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S et al., 2018. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human molecular genetics
  3. Archer BG, Ronquillo CC, 2026. Novel mutation in a case of TTLL5-associated cone dystrophy with a characteristic 'solar flare' sign. Ophthalmic genetics

Other ophthalmological conditions

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