Mette Warburg

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36.

Congenital cataract, type Volkmann (McKusick no 115665, gene symbol CCV) is an autosomal dominant eye disease. The disease is characterized by a progressive, central and zonular cataract, with opacities both in the embryonic, fetal and juvenile nucleus and around the anterior and posterior Y-suture. We examined blood samples from 91 members of a Danish pedigree comprising 426 members, by using highly informative short tandem repeat polymorphisms and found the closest linkage of the disease gene (CCV) to a (CA)n dinucleotide repeat polymorphism at locus D1S243 (Zmax = 14.04 at θM = 0.025 θF = 0.000), at a penetrance of 0.90. Using two additional chromosome 1 markers, we were able to map the CCV gene in the sequence 1pter-(CCV, D1S243)-D1S468-D1S214. The (enolase 1) gene has been mapped to this area; however, a mutation described in this gene did not give eye disease.

Norrie's disease--differential diagnosis and treatment.

A report on six children with Norries disease is presented. It is shown that the diagnosis can be established in sporadic cases if the early retrolental opacities are seen, and dementia or psychosis occurs after a normal infancy. Hearing loss is an important diagnostic sign. Children with Norries disease are more sensitive to disruption of family relationship than most other congenitally blind children.

NORRIE'S DISEASE: A New Hereditary Bilateral Pseudotumour of the Retina

Norries disease is an X-linked disease presenting bilateral blindness at birth or during the first few months of life. A white retrolental membrane is seen initially, later the eyes usually become phthisic. Dementia or psychosis appears in about 25% and sensory hearing loss present in 1/5 or 1/4 of the blind males. Carriers are clinically unaffected. The main differential diagnoses comprise retinoblastoma, retrolental fibroplasia, toxoplasmosis, falciform detachment, juvenile retinoschisis, sex-linked microphthalmia, sex-linked cataract and congenital retinal detachment.

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

SummaryNorrie disease (ND) is an X-linked recessive disorder with congenital blindness (atrophia bulborum hereditaria, pseudoglioma). Six kindreds segregating for ND were studied for linkage with polymorphic markers of the human X chromosome. No recombination was observed between the ND-locus (NDP) and the DXS7 locus, the latter followed as a DNA-restriction fragment length polymorphism, detected by the recombinant DNA probe L1.28, and assigned to the region Xp11.2–Xp11.3. The maximum lod scores are % MathType!MTEF!2!1!+-% feaafiart1ev1aaatCvAUfeBSjuyZL2yd9gzLbvyNv2CaerbuLwBLn% hiov2DGi1BTfMBaeXatLxBI9gBaerbd9wDYLwzYbItLDharqqtubsr% 4rNCHbGeaGqipu0Je9sqqrpepC0xbbL8F4rqqrFfpeea0xe9Lq-Jc9% vqaqpepm0xbba9pwe9Q8fs0-yqaqpepae9pg0FirpepeKkFr0xfr-x% fr-xb9adbaqaaeGaciGaaiaabeqaamaabaabaaGcbaWexLMBb50ujb% qeguuDJXwAKbacfiGaf8NEaONbaKaaieaacaGF9aGaa43maiaa+5ca% caGF4aGaa4xmaaaa!3FCE!

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity

\hat z = 3.81

Ocular coloboma and multiple congenital anomalies: The CHARGE association

at % MathType!MTEF!2!1!+-% feaafiart1ev1aaatCvAUfeBSjuyZL2yd9gzLbvyNv2CaerbuLwBLn% hiov2DGi1BTfMBaeXatLxBI9gBaerbd9wDYLwzYbItLDharqqtubsr% 4rNCHbGeaGqipu0Je9sqqrpepC0xbbL8F4rqqrFfpeea0xe9Lq-Jc9% vqaqpepm0xbba9pwe9Q8fs0-yqaqpepae9pg0FirpepeKkFr0xfr-x% fr-xb9adbaqaaeGaciGaaiaabeqaamaabaabaaGcbaaccaGaf8hUde% NbaKaacqWF9aqpcqWFWaamcqWFUaGlcqWFWaamcqWFWaamaaa!3C27!

ACUITY CARD TESTING OF PATIENTS WITH CEREBRAL VISUAL IMPAIRMENT

\hat \theta = 0.00