Prevalence of early and late age-related macular degeneration in a rural population in Northern India: The INDEYE Feasibility Study

PURPOSE. To assess the prevalence of age-related macular degeneration (AMD) in a rural population in Northern India. METHODS. In a pilot feasibility study, 1443 people (median age, 60 years; 52% women), were identified from enumeration of the 50+ age group in 11 randomly sampled villages from a rural, periurban district of Haryana, Northern India. Of those identified, 87% attended an eye examination that included digital fundus photography. Fundus images were graded at a single reading center using definitions from the Wisconsin Age-Related Maculopathy Grading System. RESULTS. Fundus photographs were available for 1101 participants. Overall, 28.8% of participants had ungradable fundus images due to cataract. Including all with ungradable images in the denominator, the prevalence of soft drusen was 34.0% (95% confidence interval [CI] 26.1–42.9); of soft indistinct drusen, 2.2% (95% CI, 1.1–4.4); and of pigmentary irregularities, 10.8% (95% CI, 7.1–16.1). There were 15 (1.4%) cases of late-stage AMD (95% CI, 0.8–2.3) with the prevalence rising from 0.4% in the 50- to 59-year age range to 4.6% in those aged 70 years or older. CONCLUSIONS. Drusen and pigmentary irregularities are common among the rural northern Indian population. The prevalence of late AMD is similar to that encountered in Western settings and is likely to contribute significantly to the burden of vision loss in older people in the developing world.

Accommodative dysfunction in children with cerebral palsy: a population based study

Purpose. To determine the prevalence, nature, and degree of accommodative dysfunction among children with different types and severities of cerebral palsy (CP) in Northern Ireland. Methods. Ninety subjects with CP (aged 4–15 years) were recruited through the Northern Ireland CP Register (NICPR). Modified Nott dynamic retinoscopy was used to measure lag and lead of accommodation at three test distances: 25 cm (4 D), 16.7 cm (6 D), and 10 cm (10 D) with the distance correction in place. Accommodative function was also assessed in an age-matched control group (n = 125) for comparison. Each subject’s neurologic status was derived from the NICPR. Results. Children with CP demonstrate significantly reduced accommodative responses compared with their neurologically normal peers. Of the subjects with CP, 57.6% demonstrated an accommodative lag outside normal limits at one or more distances. Reduced accommodative responses were significantly associated with more severe motor and intellectual impairments (ANOVA P = 0.001, P < 0.01, respectively). Conclusions. Brain injury such as that present in CP has a significant impact on accommodative function. These findings have implications for the optometric care of children with CP and inform our understanding of the impact of early brain injury on visual development.

CRYBB1 mutation associated with congenital cataract and microcornea

The molecular characterization of a UK family with an autosomal dominant congenital cataract associated with microcornea is reported. METHODS: Family history and clinical data were recorded. This phenotype was linked to a 7.6 cM region of chromosome 22q11.2-q12.2, spanning the beta-crystallin gene cluster (ZMax of 3.91 for marker D22S1114 at theta=0). Candidate genes were PCR amplified and screened for mutations on both strands using direct sequencing. RESULTS: Sequencing of the coding regions and flanking intronic sequences of CRYBB2 and CRYBB1 showed the presence of a novel, heterozygous X253R change in exon 6 of CRYBB1. SSCP analysis confirmed that this sequence change segregated with the disease phenotype in all available family members and was not found in 109 ethnically matched controls. CONCLUSIONS: X253R is predicted to elongate the COOH-terminal extension of the protein and would be expected to disrupt beta-crystallin interactions. This is the first documented involvement of CRYBB1 in ocular development beyond cataractogenesis.