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Zpráva o onemocněních · Ophthalmological

GUCY2D-Related Dominant Cone-Rod Dystrophy

Whole genome sequencing reads the GUCY2D gene for a change in one copy that causes cone-rod dystrophy, an inherited eye condition that slowly reduces central and colour vision.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

An inherited eye condition in which the cone cells of the retina, and later the rod cells, gradually stop working, causing loss of central and colour vision from childhood or early adulthood. It is caused by changes in one copy of the GUCY2D gene.

Cone-rod dystrophy is an inherited eye condition in which the light-sensing cells of the retina gradually stop working. The first signs are usually reduced sharpness of vision, poor colour vision and sensitivity to bright light, often in childhood or early adulthood. Over time, night vision and side vision can also be affected, and the changes slowly worsen.

The condition is caused by a change in one copy of GUCY2D, which encodes retinal guanylate cyclase. This enzyme resets the light-sensing cells after light exposure. Because the form is dominant, one changed copy is enough to cause the condition. Regular eye reviews check vision and the retina, and low-vision aids are used where needed.

This form is inherited in an autosomal dominant way. Each child of an affected person has a 1 in 2 chance of inheriting the change. Genetic counselling explains this, and testing can be offered to relatives, so that anyone who carries the change can be followed up.

Onemocnění, které analyzujeme

Autozomálně dominantní

Caused by changes in one copy of GUCY2D, which encodes retinal guanylate cyclase, an enzyme that resets photoreceptors after light exposure.

Příznaky a projevy

Reduced central vision, poor colour vision and sensitivity to bright light usually begin in childhood or early adulthood and slowly worsen. Night vision and side vision may become affected later.

Co se diagnózou změní

Regular eye reviews to check vision and retinal changes, with low-vision aids where needed. Genetic counselling explains the 1 in 2 chance of passing the change to each child, and testing can be offered to relatives.

Analyzované geny

Známé také jako

CACD1; central areolar choroidal dystrophy caused by mutation in GUCY2D; choroidal dystrophy, central areolar; choroidal dystrophy, central areolar, 1; choroidal sclerosis; cone-rod dystrophy 6; cone-rod dystrophy caused by mutation in GUCY2D; cone-rod dystrophy type 6; CORD6; dominant GUCY2D retinopathy; GUCY2D central areolar choroidal dystrophy; GUCY2D cone-rod dystrophy; RCD2; retinal cone dystrophy 2

Zahrnuje 1 příbuzný podtyp ↓
  • choroidal dystrophy, central areolar, 1
MONDO:0100441Zdroje: [3][1][2]

Proč sekvenování celého genomu

Because this form is dominant, each child of an affected parent has a 1 in 2 chance of inheriting the change.

Regular eye reviews

Vision and retinal changes are checked regularly, because the condition slowly worsens over time. Low-vision aids can help when vision is reduced. Knowing the GUCY2D change confirms the cause and tells the eye team which form they are following.

Passing the change to children

Each child of an affected person has a 1 in 2 chance of inheriting the GUCY2D change. Genetic counselling explains this risk, and testing can be offered to relatives.

Reference

  1. Cone-rod dystrophy. MedlinePlus Genetics
  2. Hamel CP, 2007. Cone rod dystrophies. Orphanet journal of rare diseases
  3. GUCY2D gene. MedlinePlus Genetics

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