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Zpráva o onemocněních · Ophthalmological

GUCY2D Retinopathy (Leber Congenital Amaurosis 1)

Whole genome sequencing reads the GUCY2D gene for the changes in both copies that cause Leber congenital amaurosis type 1, a severe inherited eye condition that affects vision from birth.

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, a form of Leber congenital amaurosis type 1, causing severe vision loss from birth or early infancy. It is caused by changes in both copies of the GUCY2D gene, which is needed for light signalling in the retina.

This is a severe inherited eye condition, also called Leber congenital amaurosis type 1, that causes severe vision loss from birth or early infancy. Children often have wandering eye movements (nystagmus), slow or absent pupil responses to light, and a habit of poking their eyes, known as Franceschetti's oculo-digital sign. The retina can look fairly normal at first, and vision usually stays stable rather than worsening.

The condition is caused by changes in both copies of GUCY2D, an enzyme in the retina that helps light-sensing cells, the photoreceptors, recover after responding to light. Without it, photoreceptors cannot signal normally, although they often remain present for many years.

It is most often inherited in an autosomal recessive way. When both parents are carriers, each sibling of an affected child has a 25% chance of being affected. Carrier testing for relatives and genetic counselling are available. Care is supportive, with low-vision support, educational services and regular eye checks, and gene-based treatments are being studied in clinical trials.

Onemocnění, které analyzujeme

GUCY2D-Related Recessive Retinopathy (Leber Congenital Amaurosis 1)

Autozomálně recesivní

Caused by changes in both copies of GUCY2D, an enzyme that helps photoreceptor cells recover after responding to light. Without it, photoreceptors cannot signal normally, even though they often remain present for many years.

Příznaky a projevy

Severely reduced vision from birth or the first months of life, with wandering eye movements (nystagmus), poor response to light and eye poking. The retina may look fairly normal on examination despite very poor vision. Vision usually remains stable rather than worsening.

Co se diagnózou změní

Low-vision support, educational services and regular ophthalmology follow-up. Gene-based treatments for GUCY2D are being studied in clinical trials. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.

Analyzované geny

Známé také jako

amaurosis congenita of Leber 1; amaurosis congenita of Leber I; amaurosis congenita of Leber, type 1; cone-rod dystrophy 6; cone-rod dystrophy caused by mutation in GUCY2D; cone-rod dystrophy type 6; CORD6; CRB; GUCY2D cone-rod dystrophy; GUCY2D Leber congenital amaurosis; LCA; LCA1; Leber congenital amaurosis 1; Leber congenital amaurosis caused by mutation in GUCY2D; Leber congenital amaurosis type 1; night blindness, congenital stationary, type 1I; RCD2; recessive GUCY2D retinopathy; retinal blindness, congenital; retinal cone dystrophy 2

Zahrnuje 2 příbuzných podtypů ↓
  • Leber congenital amaurosis 1
  • night blindness, congenital stationary, type1i
MONDO:0100453Zdroje: [1][3][2][4]

Proč sekvenování celého genomu

This retinopathy is recessive, so carrier testing of relatives and genetic counselling are central to the advice for families.

Gene-based treatments are in trials

A phase 1/2 study published in The Lancet in 2024 tested rising doses of a gene therapy injected under the retina in 15 people with GUCY2D changes. Gene-based treatments for GUCY2D remain in clinical trials, and support for families continues in the meantime.

Support and eye follow-up

Children and their parents are referred to services for visually impaired children, and low-vision aids and correction of refractive error are used where helpful. Regular ophthalmic checks look for amblyopia, glaucoma or cataract where some vision remains.

Reference

  1. Weleber RG, Francis PJ, Trzupek KM, Beattie C, 2004. Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. GeneReviews
  2. Leber congenital amaurosis. MedlinePlus Genetics
  3. Boye SE, 2016. A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1). Advances in experimental medicine and biology
  4. Yang P, Pardon LP, Ho AC, Lauer AK, Yoon D, Boye SE et al., 2024. Safety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study. Lancet (London, England)

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Jeden test. Odpovědi na celý život.

Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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