L E Allen
- Genotype-phenotype correlation in British families with X linked congenital stationary night blindnessL E Allen
Eye Department, Addenbrooke s Hospital, Cambridge, UK
Br J Ophthalmol 87:1413-20. 2003..To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype...
- Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?T Ung
Ophthalmology Department, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
Doc Ophthalmol 111:169-78. 2005..To determine whether patients with congenital stationary night blindness (CSNB) have electrophysiological evidence of optic nerve fibre mis-routing similar to that found in patients with ocular albinism (OA)...
- Fabry disease in children: correlation between ocular manifestations, genotype and systemic clinical severityL E Allen
Department of Ophthalmology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
Br J Ophthalmol 94:1602-5. 2010..This study aims to determine the prevalence of ophthalmic manifestations in children with the condition and investigate the correlation with genotype and systemic disease severity...
- Full-field ERG responses recorded with skin electrodes in paediatric patients with retinal dystrophyS P Meredith
Ophthalmology Department, Addenbrooke s Hospital, Cambridge, UK
Doc Ophthalmol 109:57-66. 2004..Assess ERG responses recorded with skin electrodes in children with retinal dystrophies...
- Reversible posterior leucoencephalopathy syndrome: a cause of temporary cortical blindnessN Niyadurupola
Br J Ophthalmol 89:924-5. 2005
- Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6E O'Connor
Br J Ophthalmol 90:653-4. 2006