Ocular findings in Norwegian patients with ataxia‐telangiectasia: a 5 year prospective cohort study

Abstract

ABSTRACT.Purpose: To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia-telangiectasia (AT) followed through 5 years. Methods: Ten Norwegian patients with AT aged 2-22 years (three females, seven males) were examined. The diagnosis was confirmed clinically as well as with molecular genetic studies. Conventional ophthalmologic examination was performed and supplemented by photographs of the conjunctiva, video recordings and registration of eye motility in five consecutive years. Additionally conjunctival biopsies were performed at the end of the follow-up period. Results: General ataxia was usually detected when the child started to walk. All children over the age of 4 years had abnormal saccade movements, a form of ocular motor apraxia. Conjunctival telangiectasias were mostly visible at 4-5 years, primarily within the palpebral fissure. Immunohistochemical examination of conjunctival biopsies showed an increased number of cross-sections of blood vessels and neurons surrounded by glial tissue. There was a tendency to slightly earlier onset of conjunctival telangiectasias in the patients homozygous for a founder mutation compared with the other patients. Conclusion: The diagnosis of AT can be supported at preschool age by the onset of ocular motor apraxia and conjunctival telangiectasias. The findings become more prominent with age. The conjunctival telangiectasias seem to appear slightly earlier in the patients who are homozygous for a Norwegian founder mutation than in the rest of the patients.

Ocular Motor Score (OMS): a clinical tool to evaluating ocular motor functions in children. Intrarater and inter‐rater agreement

“…In an earlier study on ocular motor findings in patients with AT, all the children over 4 years old had abnormal saccades in the form of oculomotor apraxia, unstable fixation and SP with small catch‐up saccades (Riise et al. ). The OMS protocol should be valuable when used for following up progressive neuropaediatric disorders such as AT and Complex I (Fahnehjelm et al.…”

Closer interaction with paediatricians in everyday practice as well as in research gives a more holistic view of the child and offers a new dimension for the paediatric ophthalmologist

“…Many articles on paediatric ophthalmology in last year's Acta describe the complex problem of children with additional somatic diseases or dysfunctions: Mac Cord and coauthors stressed that dry eyes are often related to systemic disease and that somatic investigations are necessary in order not to misdiagnose the ocular findings (Mac Cord Medina et al 2007). Long-term oculomotor and visual function in children with spina bifida cystica were reported (Caines et al 2007), as were ocular findings like oculomotor apraxia and conjunctival teleangiectasia, which can support the diagnosis of ataxia-teleangiectasia in pre-school children (Riise et al 2007). Visual dysfunctions in children with developmental delay were reported in earlier issues (Nielsen et al 2007;Sandfeld Nielsen et al 2007), and a report on unexpected periventricular leukomalacia in children who had suboptimal results after routine strabismus surgery was presented recently by Muen et al (2007).…”

“…Fifty to eighty per cent of the children in the Swedish Register of Visually Impaired Children have concurrent somatic diseases or dysfunctions (Blohme´& Tornqvist 1997), and it is important to determine common causes. A great deal of the current ophthalmological research in the Nordic countries is focused on ocular problems in children who also risk or suffer somatic problems: for example, studies on identifying risk factors for retinopathy of prematurity (Hellstro¨m et al 2003;Lo¨fqvist et al 2006), consequences for the optic disc and visual function in children with cerebral white matter damage of immaturity (Jacobson et al 2006) and ocular problems in children with neurological disorders (Aring et al 2007;Riise et al 2007). The frequency of associated somatic problems demands greater knowledge from the paediatric ophthalmologist of the pathogenesis of these disorders and to know how, why and when the eyes are affected.…”

“…2006) and ocular problems in children with neurological disorders (Aring et al. 2007; Riise et al. 2007).…”

“…Long‐term oculomotor and visual function in children with spina bifida cystica were reported (Caines et al. 2007), as were ocular findings like oculomotor apraxia and conjunctival teleangiectasia, which can support the diagnosis of ataxia‐teleangiectasia in pre‐school children (Riise et al. 2007).…”