Anterior chamber depth and primary angle-closure glaucoma: an evolutionary perspective

Journal compilation © 2008 Royal Australian and New Zealand College of OphthalmologistsAnterior chamber depth is an inheritable trait which is affected by age, gender and race. Over 30 years ago, Alsbirk proposed that the shallow anterior chamber, which was typical of the Greenlandic Inuit, and which brings the iris in proximity to the cornea, may have evolved as a thermoregulatory adaptation to resist corneal freezing. Here, this hypothesis is revisited. Recent population genetic data which provide evidence for migration patterns of early humans are discussed and the notions of natural selection and ocular adaptation to cold climates are considered. Problems with the hypothesis are examined, but the idea that the shallow anterior chamber has a thermoregulatory role appears sound and suggests that shallow anterior chambers may have evolved in Homo sapiens living in north-east Asia during the last Ice Age.Robert J Casso

Can we prevent angle-closure glaucoma?

PURPOSE: Glaucoma is the second cause, after cataract, of world blindness. Approximately half is thought to be primary angle-closure glaucoma (ACG). This review asks whether ACG can be prevented on a population basis. METHODS AND POPULATIONS: Review of published information from the Inuit of Greenland, Canada and Alaska, and descriptions of recent studies in Asian populations in Mongolia, China and South-East Asia. RESULTS: The Greenland Inuit have the shallowest anterior chamber depths (ACDs) so far recorded. The proportion of blindness due to ACG was reduced from 64% to 9% over 37 years by systematic optical measurement of central ACD and the van Herick test in the older Inuit, followed by gonioscopy and prophylactic iridectomy or laser iridotomy when indicated. In Mongolia, ultrasound measurement of central ACD had good sensitivity and specificity as a screening test. A randomized controlled trial of screening and prophylactic laser is being completed. In China and South-East Asia, the mechanism of angle closure appears to be more varied and complex and its detection may require more elaborate imaging. CONCLUSIONS: The mechanism of angle closure and potential for prevention by screening are likely to have to be determined specifically for each population at risk

Systemic autonomic function in subjects with primary angle-closure glaucoma: A comparative study of symptomatic and asymptomatic disease presentation

10.1111/j.1442-9071.2004.00791.xClinical and Experimental Ophthalmology322137-141CEOP

Heterozygous deletion of SYNGAP enzymatic domains in rats causes selective learning, social and seizure phenotypes

AbstractPathogenic variants in SYNGAP1 are one of the most common genetic causes of nonsyndromic intellectual disability (ID) and are considered a risk for autism spectrum disorder (ASD). SYNGAP1 encodes a synaptic GTPase activating protein that modulates the intrinsic GTPase activity of several small G-proteins and is implicated in regulating the composition of the postsynaptic density. By targeting the deletion of exons encoding the calcium/lipid binding (C2) and GTPase activating protein (GAP) domains, we generated a novel rat model to study SYNGAP related pathophysiology. We find that rats heterozygous for the C2/GAP domain deletion (Syngap+/Δ-GAP) exhibit reduced exploration and fear extinction, altered social behaviour, and spontaneous seizures, while homozygous mutants die within days after birth. This new rat model reveals that the enzymatic domains of SYNGAP are essential for normal brain function and provide an important new model system in the study of both ID/ASD and epilepsy.</jats:p

The ZIC gene family encodes multi-functional proteins essential for patterning and morphogenesis.

The zinc finger of the cerebellum gene (ZIC) discovered in Drosophila melanogaster (odd-paired) has five homologs in Xenopus, chicken, mice, and humans, and seven in zebrafish. This pattern of gene copy expansion is accompanied by a divergence in gene and protein structure, suggesting that Zic family members share some, but not all, functions. ZIC genes are implicated in neuroectodermal development and neural crest cell induction. All share conserved regions encoding zinc finger domains, however their heterogeneity and specification remain unexplained. In this review, the evolution, structure, and expression patterns of the ZIC homologs are described; specific functions attributable to individual family members are supported. A review of data from functional studies in Xenopus and murine models suggest that ZIC genes encode multifunctional proteins operating in a context-specific manner to drive critical events during embryogenesis. The identification of ZIC mutations in congenital syndromes highlights the relevance of these genes in human development.JOURNAL ARTICLESCOPUS: re.jinfo:eu-repo/semantics/publishe