Vitreoretinal findings similar to retinopathy of prematurity in infants with compound heterozygous protein S deficiency.

OBJECTIVE: To present previously undescribed vitreoretinal findings similar to severe retinopathy of prematurity (ROP) in two siblings (daughter and son) with a thrombophilic disorder, compound heterozygous protein S (PS) deficiency. DESIGN: Family genotype study and literature review. PARTICIPANTS: Two unrelated heterozygous PS-deficient parents and their two children with compound heterozygous PS deficiency were studied. The gestational age and birth weight of the daughter were 40 weeks and 3200 g, respectively, and those of the son were 34 weeks and 2150 g, respectively. Three other neonates with homozygous or compound heterozygous PS deficiency and ophthalmologic findings were identified in the literature. INTERVENTION: The daughter underwent lensectomy-vitrectomy at 48 weeks adjusted age bilaterally. The son underwent therapy developed for severe ROP: laser therapy of the peripheral avascular retina at 39 weeks adjusted age, and bilateral lensectomy-vitrectomy with membrane peel of intravitreous proliferation from the optic disc at 42 weeks adjusted age. MAIN OUTCOME MEASURES: The main clinical outcome measures were retinal appearance and functional vision. Genotypes of the family members were determined. RESULTS: One of the four eyes retained functional vision. A normal-appearing posterior retina, normal scotopic and photopic flash electroretinograms, and a normal flash visual-evoked response were documented from the left eye of the son at 62 weeks adjusted age. The other three eyes had inoperable retinal detachments and no functional vision. The mother had type I PS deficiency and the father had type II PS deficiency. Compound heterozygous PS deficiency was confirmed in both children. CONCLUSION: In both children, normal vasculogenesis was interrupted. At 39 weeks adjusted age, the retinal examination of the son revealed extraretinal fibrovascular proliferation at the optic disc (reactivation of the hyaloid system) and in the peripheral retina (interruption of inner retinal vascularization). Patients with homozygous or compound heterozygous PS deficiency may present as infants with severe ROP. The authors' experience suggests that appropriately timed surgical procedures, which are efficacious for ROP, can preserve vision in infants with thrombophilic disorders.

A small foveal avascular zone may be an historic mark of prematurity.

OBJECTIVE: To compare in children the area and diameter of the foveal avascular zone (FAZ) of former preterm infants, when no significant retinopathy of prematurity (ROP) developed, to the area and diameter of the FAZ of former term infants. DESIGN: Retrospective observational case series and literature review. PARTICIPANTS: Forty-nine children (39 former preterm infants and 10 former term infants) between the ages of 1 and 17 years had fluorescein angiograms. All of these children had been appropriate weight for gestational age at birth and had no genetic disorders. Neither eye of any of these children had any macular ectopia or vessel traction, had been treated for active ROP, had developed active ROP >stage 3 mild, or had any refractive error > +/- five diopters. Every child had a visual acuity of 20/40 or better in both eyes. METHODS: The area and greatest diameter of the FAZ were measured using digital image analysis of masked fundus fluorescein angiograms. Variables of gender, race, multiple birth, gestational age, birth weight, ROP stage, age, and refraction at the time of fluorescein angiography, and final visual acuity were recorded. RESULTS: Increasing FAZ area and greatest diameter correlated significantly with increasing gestational age and birth weight: FAZ area (microm2) versus gestational age (weeks) (R/F/P = 0.88/166.70/<0.0001); FAZ greatest diameter (microm) versus gestational age (weeks) (R/F/P = 0.87/151.10/<0.0001); FAZ area (micro/m2) versus birth weight (g) (R/F/P = 0.88/167.06/<0.0001); and FAZ greatest diameter (microm) versus birth weight (g) (R/F/P = 0.87/148.74/ <0.0001). A small or absent FAZ was found in all former preterm infants who had been < or = 30 weeks gestational age or had weighed < or = 1100 g at birth. A normal FAZ was present in all children who had been > or = 36 weeks gestational age or had weighed > or = 2650 g at birth. None of the other parameters studied correlated with FAZ area or greatest diameter. CONCLUSION: This study provides evidence that the FAZ in developing humans is initially densely vascularized with a fine meshwork of inner retinal vessels during vasculogenesis. This vascular meshwork undergoes regression by apoptosis in all infants > or = 36 weeks gestational age at birth to form a normal FAZ, but apoptosis almost never occurs in preterm infants < or = 30 weeks gestational age at birth. Although there is no effect on final visual acuity, a small or absent FAZ may be an historic mark of prematurity.

Refractive outcome in eyes with retinopathy of prematurity treated with cryotherapy or diode laser: 3 year follow up.

AIMS: To compare the refractive error 1 to 3 years after cryotherapy or diode laser treatment for threshold retinopathy of prematurity. METHODS: Twenty six infants treated with diode laser and 17 infants treated with cryotherapy underwent cycloplegic refraction during follow up. RESULTS: After 3 years of follow up, 94.1% of patients had myopia (right eye if bilateral) following cryotherapy and 45.5% of patients had myopia following diode laser treatment. The difference between the two proportions was 48.7% (95% confidence interval 17.8 to 80.1, p = 0.004). In the cryotherapy group 55% of patients were highly myopic (> -6.00 dioptres) while in the laser group there were no high myopes. CONCLUSIONS: In the diode laser group there were significantly fewer myopes than in the cryotherapy group up to 3 years after the procedure. There was no trend towards increasing myopia in the laser treated group and the refraction in these eyes stabilised after 1 year. In the cryotherapy group there was a significant increase in the degree of myopia between year 1 and year 3 of follow up (p = 0.02). Diode laser treatment is thought to be as effective as cryotherapy, and has the added benefit of reducing myopia, in the treatment of ROP.

Advanced cicatricial retinopathy of prematurity--outcome and complications.

AIMS: To assess the outcome and complications of patients with advanced retinopathy of prematurity (ROP). METHODS: All patients with eyes achieving stage 4 or 5 retinopathy of prematurity were reviewed. Twenty one eyes were diagnosed during ROP screening in maternity hospitals and 10 eyes were of infants transferred for treatment. RESULTS: Thirty one eyes of 17 patients were included. Thirteen eyes were treated for acute disease but progressed to stage 4 or 5; seven had cryotherapy and six diode laser photocoagulation. Cataract was found in 17 eyes (54.8%), glaucoma in seven eyes (22.6%), microphthalmos in 15 (48.4%), and corneal opacification in four eyes (12.9%). Fifteen eyes had surgical procedures; two (6.5%) had trabeculectomy, four (12.9%) had lensectomy, and nine (29%) retinal detachment repair. Transferred infants had their initial eye examination later than infants in hospitals screened by the authors and 80% of them had progressed beyond threshold ROP by the time they were transferred for treatment. Twenty nine eyes (93.6%) had visual acuities of 3/60 or less and only two eyes (6.5%) achieved 6/18 or less. CONCLUSION: The visual outcome of the eyes undergoing retinal re-attachment surgery was disappointing. Cataract, microphthalmos, and glaucoma were the most frequent complications, and surgical intervention was often required. The need for children who are blind as a result of ROP to have long term follow up is shown.