The acute morphologic changes that occur at the optic nerve head induced by medical reduction of intraocular pressure.

Purpose: The mechanical theory of glaucoma postulates that raised intraocular pressure (IOP) causes laminar distortion resulting in damage to axons at the optic nerve head. There is some evidence that the change in morphology may occur over a short time course. The aim of this paper was to detail the acute morphologic changes at the optic nerve head when IOP was lowered with medical therapy in a clinical population.

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.

Stickler syndrome due to mutations in COL2A1 is usually the result of premature termination codons and nonsense mediated decay resulting in haploinsufficiency of type II collagen. Here we present two missense mutations and one apparently silent mutation that each result in Stickler syndrome, but via different molecular mechanisms. One alters the translation initiating ATG codon.

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

Background/aims: The type II collagenopathies are a phenotypically diverse group of genetic skeletal disorders caused by a mutation in the gene coding for type II collagen. Reports published before the causative mutations were discovered suggest heritable bone dysplasias with skeletal malformations may be associated with a vitreoretinopathy.

Methods: A retrospective notes search of patients with a molecularly characterised type II collagenopathy chondrodysplasia who had been examined in the ophthalmology clinic was conducted.

Risk factors for posterior vitreous detachment: a case-control study.

Purpose: To identify possible risk factors for the development of posterior vitreous detachment (PVD).

Design: Retrospective case-control study.

Methods: A total of 138 cases with PVD and 114 age-matched controls were accrued from two different sites.

Clinical characterisation and molecular analysis of Wagner syndrome.

Aim: To detail the clinical findings in a British family with molecularly characterised Wagner syndrome.

Background: Only in the last year has the specific genetic defect in Wagner syndrome been identified, and the background literature of the molecular genetics is outlined. Clinical and laboratory findings in a second case of Wagner syndrome are included to highlight difficulties that can be encountered when identifying pathogenic mutations for disorders arising in complex genes.