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Condition report · Ophthalmological

ADAM9-Related Cone-Rod Dystrophy

An inherited eye condition in which the light-sensing cone cells, and later the rod cells, of the retina gradually stop working, affecting central and colour vision first. It is caused by changes in both copies of the ADAM9 gene.

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The condition we analyse

Autosomal recessive

Caused by loss-of-function changes in both copies of ADAM9, which is needed to keep the connection between the photoreceptor cells and the supporting layer of the retina. Each parent usually carries one changed copy.

Signs and symptoms

Visual impairment usually starts in childhood, and the retina may show a macular lesion, greyish-white discolouration of the pigment layer and optic disc pallor. Cataracts can also occur. Both cone and rod function are affected, and the condition is progressive.

What a diagnosis changes

Regular eye reviews with retinal imaging track progression, and low-vision aids, tinted lenses and educational or workplace support help day to day. Genetic counselling and carrier testing of relatives clarify recurrence risk for the family.

Genes analysed

Includes 1 related subtype ↓
  • cone-rod dystrophy 9
MONDO:0800398Sources: [1][2][3]

References

  1. Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M et al., 2009. Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. American journal of human genetics
  2. El-Haig WM, Jakobsson C, Favez T, Schorderet DF, Abouzeid H, 2015. Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. The British journal of ophthalmology
  3. Li Z, Cheng W, Zi F, Wang J, Huang X, Sheng X et al., 2023. Four different gene-related cone-rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance. Frontiers in genetics

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