Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder
characterized by developmental abnormalities of the eye and central nervous system and by …

Retinoblastoma is the most common eye malignancy in childhood caused by mutations in
the RB1 gene. Both alleles of the RB1 gene must be mutated for tumour development. The …

Background: This study was conceived to provide an insight into the spectrum of glaucoma
in the pediatric population. We also set out to compare the success of disease control and …

Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive
developmental disorders characterized by brain, eye, and endocrine abnormalities …

Objective: To establish the prevalence among women of primary Sjögren's syndrome (PSS)
in Birmingham, UK. Methods: Eight hundred and forty‐six female Caucasians from two …

Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven
genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in …

Complete achromatopsia or rod monochromatism is a stationary cone dystrophy, with an
incidence of, 1 in 30 000, in which functional cones are absent from the retina. 1 2 Affected …

purpose. To test the incidence of mutations in RPGR ORF15 in six families with X-linked
progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone …

Background: Screening is necessary for infants at risk of retinopathy of prematurity. Despite
local anaesthetic drops, infants find eye examinations distressing, displaying behavioural …

purpose. To determine the molecular basis for phenotypic variability in a three-generation
consanguineous family containing a single individual with complete achromatopsia and …