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Zpráva o onemocněních · Ophthalmological

Horizontal Gaze Palsy with Progressive Scoliosis

Whole genome sequencing reads the ROBO3 gene for changes in both copies that cause horizontal gaze palsy with progressive scoliosis, in which the eyes cannot move side to side 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

A rare inherited condition in which the eyes cannot move side to side from birth, and a curvature of the spine develops and worsens during childhood. It is caused by changes in both copies of the ROBO3 gene, which guides nerve fibres as the brainstem develops.

Horizontal gaze palsy with progressive scoliosis is a rare inherited condition. The eyes cannot move side to side from birth, although up-and-down movements are normal, so people turn their head to follow things. A curvature of the spine begins in childhood and usually gets worse, often becoming severe. Intellect is usually normal.

The condition is caused by changes in both copies of ROBO3, which helps certain nerve fibres cross the midline of the developing brainstem. Without this crossing, the nerve pathways that control side-to-side gaze and some movement pathways do not cross as usual. A characteristic shape of the brainstem can be seen on brain MRI.

The condition is inherited in an autosomal recessive way. Both parents of an affected child are usually carriers, so genetic counselling and carrier testing of relatives are available. Regular spine monitoring is needed, with bracing or surgery for progressive scoliosis, and eye review for any squint or reduced vision.

Onemocnění, které analyzujeme

Horizontal Gaze Palsy with Progressive Scoliosis 1

Autozomálně recesivní

Caused by changes in both copies of ROBO3, which is needed for certain nerve fibres to cross the midline of the developing brainstem. As a result, the nerve pathways controlling side-to-side gaze and some motor pathways do not cross as usual.

Příznaky a projevy

Absent horizontal eye movements from birth, with normal up-and-down movements; people compensate by turning the head. Scoliosis begins in childhood and usually progresses, often becoming severe. Brain MRI shows a characteristic shape of the brainstem. Intellect is usually normal.

Co se diagnózou změní

Regular spine monitoring with bracing or surgery for progressive scoliosis, and eye review for any squint or reduced vision. Both parents of an affected child are usually carriers, so genetic counselling and carrier testing of relatives are available.

Analyzované geny

Známé také jako

gaze palsy, familial horizontal, with progressive scoliosis, 1; HGPPS; HGPPS1

MONDO:0020790OMIM 607313MedGen 1647423Zdroje: [1][2][3]

Proč sekvenování celého genomu

Horizontal gaze palsy with progressive scoliosis is inherited from two carrier parents, and the gene result can guide testing in the family.

Regular spine and eye checks

Scoliosis often progresses through childhood, so regular spine reviews are an important part of care. Bracing or surgery is used when the curve progresses. Eye review checks for any squint or reduced vision.

Carrier testing for relatives

Both parents are usually carriers, and carrier testing of relatives is available. Genetic counselling explains the recessive pattern for the family. Once the ROBO3 changes are known in an affected person, relatives can be offered testing.

Reference

  1. Horizontal gaze palsy with progressive scoliosis. MedlinePlus Genetics
  2. Pinero-Pinto E, Pérez-Cabezas V, Tous-Rivera C, Sánchez-González JM, Ruiz-Molinero C, Jiménez-Rejano JJ et al., 2020. Mutation in ROBO3 Gene in Patients with Horizontal Gaze Palsy with Progressive Scoliosis Syndrome: A Systematic Review. International journal of environmental research and public health
  3. Günbey C, Çavdarlı B, Göçmen R, Yazıcı M, Temuçin ÇM, Özdemir Ö et al., 2024. Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum. Annals of clinical and translational neurology

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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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