Retinopathy of prematurity (ROP) is a retinal vascular disease which occurs in infants with a short gestational age and low birth weight and may lead to retinal detachment and blindness. In some premature infants, ROP progresses to advanced stages despite rigorous intervention, but in the majority, it spontaneously regresses before the threshold stage. Genetic factors, e.g. mutations in the Norrie disease (ND) gene, have been implicated in determining the progression of ROP to advanced stages. We have identified a novel C597A polymorphism of the ND gene; we screened this and another mutation in the ND gene, C110G, in 210 premature Kuwaiti infants using PCR-RFLP, DNA sequence analysis and DNA enzyme immunoassay hybridization to investigate their association with advanced-stage ROP. In this cohort of premature Kuwaiti newborns, 115 of 210 babies had no eye problems and served as controls, while 95 were found to have ROP. In 71 of the 95 ROP cases, the disease spontaneously regressed at or before stage 3, while in 24 of 95 ROP cases, the disease progressed to advanced stages 4 or 5. The incidence of the AA genotype of the C597A polymorphism was considerably higher in advanced-stage ROP cases (83.3%) compared to spontaneously regressing ROP cases (0%) and the normal controls (10.4%) (p < 0.0001). For the other genotypes, no significant difference was detected between the controls and ROP cases. In the case of the C110G mutation in the ND gene, no significant differences were detected between the controls and ROP cases, and the majority of subjects had a CC genotype in all three groups.

Retinopathy of prematurity (ROP) is a disease characterized by retinal neovascularization, possibly leading to retinal detachment and finally blindness. In a proportion of ROP cases, the disease progresses to advanced stages despite rigorous intervention. Missense mutations of the Norrie disease (ND) gene have been associated with progression of the disease in ROP cases from the USA. We have investigated the presence of ND gene mutations in 102 premature newborns of Kuwaiti Arab origin to replicate this finding in a different population/racial group. 56 (55%) of these newborns had normal eyes and served as controls. In 35 (34%) cases, the ROP regressed spontaneously during stage 1–3. In 11 (11%) cases, ROP progressed to advanced stages. A PCR-RFLP method was used to detect the mutations in exon 3 of the ND gene and confirmed the DNA sequence by direct sequencing of the PCR product. The [R121W] mutation of the ND gene was not detected in the premature newborns screened from our Kuwaiti population/group. For the second mutation [L108P], a genotype (PP) was present in 98% of the premature newborns screened and only in 1 of 56 normal infants was the (LL) genotype detected. Our population is genetically homogenous in that genotype (PP) was detected at codon 108 in almost all controls and ROP cases. We did not find an association between the presence or absence of missense mutations of the ND gene and the risk of severe ROP.

Retinopathy of prematurity (ROP) is a disease characterized by neovascularization which occurs in infants with short gestational age and low birth weight and can lead to retinal detachment and blindness. In a proportion of ROP cases, the disease progresses to advanced stages despite rigorous intervention. The genotypes for angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism were determined in 181 premature Kuwaiti infants using a polymerase chain reaction (PCR) method. The incidence of different I/D genotypes was compared in ROP cases (n = 74) and non-ROP controls (n = 107) and within 2 subgroups of ROP patients: (1) in which ROP regressed spontaneously (stages 1–3, n = 53), and (2) in which ROP progressed to advanced stages (stages 4 and 5, n = 21). When the ROP cases were considered collectively as one group, the incidence of the DD genotype was almost identical to that of non-ROP controls. The incidence of heterozygous ID genotype was higher in non-ROP controls. The incidence of the II genotype was higher in ROP cases compared to non-ROP controls (p < 0.01). In contrast to this, when ROP cases were divided in 2 subgroups the incidence of the DD genotype was significantly higher in advanced stage ROP cases compared to spontaneously regressing ROP cases (p < 0.04). The incidences of ID and II genotypes were not significantly different amongst the 2 subgroups of ROP patients.

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