Clinical trial NCT02812563: Familial Analysis of Keratoconus Risk
Official title: Familial Analysis of Keratoconus Risk
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Keratoconus
Lead sponsor: University Hospital, Bordeaux
Sponsor class: OTHER
First posted: 2016-06-24
Enrollment: 95
Sex: ALL
Minimum age (years): 7
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 100 patients + 2-5 members of family.

Brief summary: The principal objective of this study is to evaluate the frequency of KC inside family of patients with confirmed KC.

It's a familial, epidemiological, prospective, single-center study.

Detailed description: Keratoconus is a common bilateral progressive corneal ectatic disease causing visual impairment by inducing irregular astigmatism and corneal opacities. This disorder typically begins during teenage years, progresses until the age of 30 to 40 years and, in severe forms, may need a corneal transplantation.

Currently, keratoconus has not known etiopathogenesis, and it is difficult to detect subclinical forms.

Several risk factors seem to be implied, environmental and genetic : the risk of keratoconus in case of familial history of keratoconus isn't well known at that time, but seems to be important to consider to promote screening and follow up of patient with a familial history of keratoconus (KC).

Eligibility criteria: Inclusion Criteria:

Case :

* patient carrier of keratoconus
* more than 7 years
* patient who didn't expressed opposition as for computerization and use of data concerning him

Family of case

* to have a first degree family member (father, mother, brother, sister, child) carrier of keratoconus
* more than 7 years
* patient who didn't expressed opposition as for computerization and use of data concerning him

Exclusion Criteria:

* ocular pathology or antecedent of modification of cornea (surgery, traumatism, ocular hypertension, keratitis) which could interfere with topographical analysis
* wearing of rigid contact lens for 15 days before exams, or flexible lens for 5 days before exams

Primary outcomes:
measure: proportion of diagnosed keratoconus
timeFrame: 1 day
Secondary outcomes:
measure: Assesment of familial history on KC severity
timeFrame: 1 day
measure: Evaluation of KC severity
timeFrame: 1 day
Other outcomes:
Locations:
city: Bordeaux
country: France
facility: Centre de Référence National du Kératocône Service d'ophtalmologie - Hôpital Pellegrin
Study officials:
affiliation: University Hospital Bordeaux, France
name: David Touboul, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Millodot M, Shneor E, Albou S, Atlani E, Gordon-Shaag A. Prevalence and associated factors of keratoconus in Jerusalem: a cross-sectional study. Ophthalmic Epidemiol. 2011 Apr;18(2):91-7. doi: 10.3109/09286586.2011.560747.
citation: Weed KH, MacEwen CJ, Giles T, Low J, McGhee CN. The Dundee University Scottish Keratoconus study: demographics, corneal signs, associated diseases, and eye rubbing. Eye (Lond). 2008 Apr;22(4):534-41. doi: 10.1038/sj.eye.6702692. Epub 2007 Jan 19.
citation: Assiri AA, Yousuf BI, Quantock AJ, Murphy PJ. Incidence and severity of keratoconus in Asir province, Saudi Arabia. Br J Ophthalmol. 2005 Nov;89(11):1403-6. doi: 10.1136/bjo.2005.074955.
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citation: Falls HF, Allen AW. Dominantly inherited keratoconus. J Genet Hum. 1969 Oct;17(3):317-24. No abstract available.
citation: Kemp EG, Lewis CJ. Measurement of total and specific IgE levels in the management of a family exhibiting a high incidence of keratoconus. Acta Ophthalmol (Copenh). 1984 Aug;62(4):524-9. doi: 10.1111/j.1755-3768.1984.tb03963.x.
citation: Ihalainen A. Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease. Acta Ophthalmol Suppl (1985). 1986;178:1-64.
citation: Rabinowitz YS, Garbus J, McDonnell PJ. Computer-assisted corneal topography in family members of patients with keratoconus. Arch Ophthalmol. 1990 Mar;108(3):365-71. doi: 10.1001/archopht.1990.01070050063032.