AIMS To describe the ophthalmic findings in a large cohort of epidermolysis bullosa (EB)
patients managed in one large specialist centre. METHODS A case note review of …

methods. HLA class IA,-B, and-Cw and class II DRB1 and DQB1 principal allele groups were
genotyped in two stages: initially for principal allele groups in a cohort of 100 AMD cases …

Twenty-nine patients (16 males, 13 females) with Joubert syndrome were identified from
ophthalmology, neurology, and genetic databases covering a 15-year period at Great …

Ninety-six cases of anterior globe perforation in children less than 16 years old, requiring
surgical repair, were reviewed. Seventy-three patients were male and 23 female, with a …

Objectives To perform a genotype-phenotype correlation study in an X-linked congenital
idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of …

This study addresses the aetiology of perforating ocular injury in childhood and possible
preventive measures. Data have been collected from the case notes of 143 patients …

A questionnaire regarding preferred methods of cataract extraction and anaesthesia was
sent to 456 consultant ophthalmologists in England and Wales. Replies were received from …

AIMS To define an unusual macular appearance found in association with nanophthalmos.
METHODS A case review. RESULTS Seven children (aged 8 months to 17 years) with …

Purpose: To survey national variation in the management of congenital nasolacrimal duct
obstruction, particularly the timing of intervention and the use of nasolacrimal intubation …

The underlying lesion in congenital saccade initiation failure (c‐SIF)('congenital ocular
motor apraxia','Cogan's apraxia') is uncertain. Often no abnormality can be found, yet in …