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Background Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants. Methods The Stillbirth Collaborative Research Network conducted a population-based study of stillbirth in five geographic catchment areas. Standardized postmortem examinations and karyotype analyses were performed. A single-nucleotide polymorphism array was used to detect copy-number variants of at least 500 kb in placental or fetal tissue. Variants that were not identified in any of three databases of apparently unaffected persons were then classified into three groups: probably benign, clinical significance unknown, or pathogenic. We compared the results of karyotype and microarray analyses of samples obtained after delivery. Results In our analysis of samples from 532 stillbirths, microarray analysis yielded results more often than did karyotype analysis (87.4% vs. 70.5%, P<0.001) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-number variants, 8.3% vs. 5.8%; P = 0.007). Microarray analysis also identified more genetic abnormalities among 443 antepartum stillbirths (8.8% vs. 6.5%, P = 0.02) and 67 stillbirths with congenital anomalies (29.9% vs. 19.4%, P = 0.008). As compared with karyotype analysis, microarray analysis provided a relative increase in the diagnosis of genetic abnormalities of 41.9% in all stillbirths, 34.5% in antepartum stillbirths, and 53.8% in stillbirths with anomalies. Conclusions Microarray analysis is more likely than karyotype analysis to provide a genetic diagnosis, primarily because of its success with nonviable tissue, and is especially valuable in analyses of stillbirths with congenital anomalies or in cases in which karyotype results cannot be obtained. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development.)

Patients with Parkinson's disease (PD) commonly complain of impaired visual function and difficulty reading, despite normal visual acuity. Although previous studies have evaluated contrast sensitivity, color vision, visuospatial processing, visual hallucinations, and ocular movements, none has systematically evaluated the ocular complaints and ocular findings of PD patients. Thirty patients with early untreated PD and 31 control subjects without neurologic or known ocular diseases were ophthalmologically evaluated for the frequency of visual complaints, dry eyes, blepharitis, visual hallucinations, reduced blink rate, blepharospasm, and convergence insufficiency. Ocular complaints suggesting ocular surface irritation, altered tear film, visual hallucinations, blepharospasm, decreased blink rate, and decreased convergence amplitudes were more common in PD patients than in control subjects. These findings likely account for many of the visual difficulties commonly encountered by PD patients. These ocular abnormalities frequently respond to treatment.

The Infant Aphakia Treatment Study Group IMPORTANCE The efficacy and safety of primary intraocular lens (IOL) implantation during early infancy is unknown.OBJECTIVE To compare the visual outcomes of patients optically corrected with contact lenses vs IOLs following unilateral cataract surgery during early infancy. DESIGN, SETTING, AND PARTICIPANTSThe Infant Aphakia Treatment Study is a randomized clinical trial with 5 years of follow-up that involved 114 infants with unilateral congenital cataracts at 12 sites. A traveling examiner assessed visual acuity at age 4.5 years.INTERVENTIONS Cataract surgery with or without primary IOL implantation. Contact lenses were used to correct aphakia in patients who did not receive IOLs. Treatment was determined through random assignment.MAIN OUTCOMES AND MEASURES HOTV optotype visual acuity at 4.5 years of age. RESULTSThe median logMAR visual acuity was not significantly different between the treated eyes in the 2 treatment groups (both, 0.90 [20/159]; P = .54). About 50% of treated eyes in both groups had visual acuity less than or equal to 20/200. Significantly more patients in the IOL group had at least 1 adverse event after cataract surgery (contact lens, 56%; IOL, 81%; P = .02). The most common adverse events in the IOL group were lens reproliferation into the visual axis, pupillary membranes, and corectopia. Glaucoma/glaucoma suspect occurred in 35% of treated eyes in the contact lens group vs 28% of eyes in the IOL group (P = .55). Since the initial cataract surgery, significantly more patients in the IOL group have had at least 1 additional intraocular surgery (contact lens, 21%; IOL, 72%; P < .001). CONCLUSIONS AND RELEVANCEThere was no significant difference between the median visual acuity of operated eyes in children who underwent primary IOL implantation and those left aphakic. However, there were significantly more adverse events and additional intraoperative procedures in the IOL group. When operating on an infant younger than 7 months of age with a unilateral cataract, we recommend leaving the eye aphakic and focusing the eye with a contact lens. Primary IOL implantation should be reserved for those infants where, in the opinion of the surgeon, the cost and handling of a contact lens would be so burdensome as to result in significant periods of uncorrected aphakia. TRIAL REGISTRATION clinicaltrials.gov Identifier: NCT00212134

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