Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.
OBJECTIVE
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.


CONCLUSIONS
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.
Riise
Ruth
R
Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway. ruthr@online.no
Ygge
Jan
J
Lindman
Carl
C
Stray-Pedersen
Asbjørg
A
Bek
Toke
T
Rødningen
Olaug Kristin
OK
Heiberg
Arvid
A
D000065:Accommodation, Ocular; D000293:Adolescent; D000328:Adult; D001072:Apraxias / Q000175:diagnosis; D001260:Ataxia Telangiectasia / Q000175:diagnosis*; D002196:Capillaries / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003228:Conjunctiva / Q000098:blood supply*; D003229:Conjunctival Diseases / Q000175:diagnosis*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009664:Norway; D015835:Ocular Motility Disorders / Q000175:diagnosis*; D010641:Phenotype; D010781:Photography; D011446:Prospective Studies; D012438:Saccades