Our results provide further evidence that SOX2 haploinsufficiency is a common cause of severe developmental ocular malformations and that background genetic variation determines the varying phenotypes. Given the high incidence of whole gene deletion we recommend that all patients with severe microphthalmia or anophthalmia, including unilateral cases be screened by MLPA and FISH for SOX2 deletions.

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Ultrasound axial length measurements were obtained on infants under a birthweight of 1500 g or 32 weeks gestation undergoing screening for retinopathy of prematurity (ROP). A total of 496 readings were obtained on 171 infants between 32 and 41 weeks post-conceptual age. Other details recorded were maximum stage of acute ROP, birthweight, gestational age, sex, and biparietal and occipitofrontal head diameters. The relationship of these variables to axial growth of the eye was examined using analysis of covariance with a repeated measures approach. Mean axial length increased from 15.27 mm to 16.65 mm in the left eye during this period. Following adjustment for repeated readings a growth rate of 0.18 mm/week was obtained for both eyes. Male infants were found to have longer axial lengths despite correction for birthweight, gestation and head size (p < 0.0001 right and left). Higher stages of acute ROP were also associated with shorter axial length (p < 0.05 for all stages of both eyes) but the rate of growth during the study period did not demonstrate significant differences between stages. Stage 3 infants reaching the threshold for cryotherapy had shorter axial length than stage 3 infants not receiving treatment. The effect of prematurity on the growth of the eye and the significance of these findings with respect to the subsequent development of refractive errors in premature infants are discussed.

A cohort of infants of birthweight < or = 1700 g studied prospectively for retinopathy of prematurity (ROP) has been reviewed at 6 months corrected age and the findings related to the neonatal data. The overall incidence of strabismus was 6.4% (30/468), rising from 3.1% (7/229) without ROP to 29.2% (7/24) with stage 3. Strabismus and fusional ability were significantly related to presence and severity of ROP, and abnormal neonatal cranial ultrasound findings. Binocular visual acuity was measured in 340 infants between 20 and 40 weeks corrected age. Eight were subnormal, all due to neurological problems. For the remainder, despite falling within the normal range, there was a significant trend (p < 0.001) for lower acuities with increasing ROP severity. Cycloplegic refraction on 387 infants revealed, with increasing ROP severity: 1, a significant trend towards myopia; 2, increased magnitude of astigmatism; 3, alteration of the astigmatic axis; 4, increased incidence of anisometropia. For the first three categories there was an insignificant trend between no ROP and stage 2, reaching significance only between stage 2 and 3. The predominant axis of astigmatism in infants without ROP was between 60 degrees and 120 degrees, but with ROP there was a significant trend away from this direction.