ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00370.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

ABSTRACTIncreased patient demand is leading to a corresponding increase in the need for informed genetic counselling in ophthalmic practice which requires refined diagnosis, and a detailed knowledge of molecular genetics. Accurate assessment of risk and visual potential in prospective children is becoming available for a range of retinal dystrophies allowing for more educated decisions to be made by parents.

ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00371.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

ABSTRACTWe present a patient with retinal dysplasia and cerebral dysgenesis, and discuss the relationship of this condition to the Walker‐Warburg syndrom

ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00372.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00373.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

ABSTRACTNorrie‐Warburg syndrome (NWS) is a rare X‐linked disorder characterized by blindness, which is invariable, deafness and mental disturbances, which are present occasionally. We describe here two novel mutations, a missense mutation (C126S) and a 1‐base pair insertion (insT466/T467), together with a recurrent mutation (M1V), found in patients presenting with the classical clinical phenotype of NWS. All three mutations are likely to result in prominent structural changes of the norrin pr

ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00374.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

ABSTRACTA case with a severe midline craniofacial defect, comprising a midline cleft lip and palate with a sphenoethmoidal encephalocele, hypertelorism, bilateral dysplastic optic discs and agenesis of the corpus callosum is described. The optic discs are consistent with the spectrum of appearances seen in the Morning Glory Disc Anomaly (MGDA). This anomaly is usually a uniocular problem that may be rarely associated with craniofacial abnormalities. Despite this range of abnormalities this child was developing well with a specific motor delay at the age of eight months. Cases with similar midline craniofacial abnormalities from the literature are reviewed. This condition appears to be a distinct entity within the spectrum of frontonasal dysplasia.

ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00375.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

ABSTRACTFull‐field electroretinograms were recorded from four infants (under the age of 12 months), with different types of tapetoretinal degeneration. Some of these patients, appear to have normal fundi. This article stresses the clinical usefulness of evaluation with electroretinography in young childre

ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00376.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

ABSTRACTA case of blepharo‐cheilo‐dontic (BCD) syndrome is presen

ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00377.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

ABSTRACTThree cases of ophthalmic malformations are discussed from the standpoint of the usefulness of ultrasound evaluation, however with respectful reference to the revised classification of microphthalmos and coloboma presented by Warburg 1993. The main findings were, (case 1): microphthalmos with iris coloboma, unilateral posterior orbital cyst, and mental retardation, karyotype normal, consanguineous parents, (case 2) trisomy 13 with extreme microphthalmos and cheilo‐gnatho‐palatoschisis, and (case 3) ringchromosome 14, posterior fundus colobomas, and malformation of the heart, with features corresponding to the CHARGE associat

ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00378.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY

摘要:

ABSTRACTA male infant with microcornea, anterior segment dysgenesis and congenital cataracts, but with a normal ocular posterior segment is reported. His mother also had extreme microcornea, no useful vision from birth, but had globes of grossly normal size.

ISSN:1395-3907    

DOI:10.1111/j.1600-0420.1996.tb00379.x

出版商:Blackwell Publishing Ltd    

年代:1996

数据来源: WILEY