COMPILING A NATIONAL REGISTER OF BABIES BORN WITH ANOPHTHALMIA MICROPHTHALMIA IN ENGLAND 1988-94/

Aim-To describe the prevalence of anophthalmia/microphthalmia ire babi es born int England 1988-94, as well as their overall survival, and th e incidence of associated eye and non-eye malformations; to determine the usefulness of different sources of medical and health service info rmation for establishing a retrospective register of anophthalmia/micr ophthalmia. Methods-Multiple sources for initial (retrospective) case ascertainment were surveyed, followed by questionnaires to clinicians to establish severity, associated malformations, and aetiology for Eng land, 1988-94. The population surveyed was all births in England for t his time period (4 570 350 births). Cases included live births, stillb irths, or terminations after prenatal diagnosis of congenital anomaly, with anophthalmia/microphthalmia, with or without other malformations and syndromes. Trisomy 13 was subsequently excluded. Results-The prop ortion of cases notified by any one information source was not more th an 26% (Office for National Statistics Register 22%, paediatricians 26 %, district sources 25%). Sixty nine per cent of cases (51% of severe cases) were notified by only one source, A total of 4 29 eases were re ported, prevalence 1.0 per 10 000 births. The prevalence was stable ov er time, although the proportion notified by clinicians rose in more r ecent years. Thirty four per cent of affected babies had mild micropht halmia. Of those with severe anophthalmia/microphthalmia, 51% were bil ateral, other eye malformations were present in 72%, non-eye malformat ions in 65%, and a ''known aetiology'' was attributed in 22%. Three qu arters of those severely affected survived infancy. Conclusions-Despit e high response rates from the sources of information contacted, the l ack of duplication between sources indicates the difficulties of retro spective ascertainment and the need for multiple sources when establis hing a register. Anophthalmos/microphthalmos is usually associated wit h other malformations. Most cases are of unknown aetiology.