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Biomedical subjects

H Dollfus

Publications and source records attributed to H Dollfus.

At least 37 records · Page 2Linked to original sources
PubMed1999

Extensive brain calcification in two children with bilateral Coats' disease.

We report two children with bilateral Coats' disease associated with cerebral calcifications in the basal ganglia and deep white matter, asymptomatic at the time of their discovery. Cerebellar ataxia developed secondarily in one of them. Both children were born small for date and had febrile convulsive seizures. Three similar patients have been previously reported, two of them in the same sibship; the third reported patient died of aplastic anemia. Bilateral Coats' disease in children should prompt systematic CT scan in search of cerebral calcifications. If present, neurological and genetic prognosis should be cautious.

Basal Ganglia↗
PubMed1999

[A new mode of recording retinal activity: multifocal ERG].

Global ERG recordings are only modified in conditions with diffuse or extensive retinal involvement. The use, over the last 6 months, of a new functional testing device: VERIS (visual evoked response imaging system) allows accurate detection and quantification of localized retinal function defects. Our preliminary experience shows that a careful preparation of subjects, standardized testing protocols and a good understanding of the device technology, especially software parameters are mandatory. We report our results on a series of 28 normal volunteers, grouped by age and describe the various graphic presentation of data collected. This technology should allow accurate detection and quantification of retinal functional defects in patients with age related macular degeneration as well as evaluation of visual function in retinitis pigmentosa patients before and after photoreceptor transplantation.

Adult↗
PubMed1998

CHARGE syndrome: report of 47 cases and review.

The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment on anomalies observed very frequently in neonates and infants with the CHARGE syndrome, including, minor facial anomalies, neonatal brain stem dysfunction with cranial nerve palsy, and, mostly, internal ear anomalies such as semicircular canal hypoplasia that were found in each patient that could be tested. We propose several criteria for poor survival including male gender, central nervous system and/or oesophageal malformations, and bilateral choanal atresia. No predictive factor regarding developmental prognosis could be identified in our series. A significantly higher mean paternal age at conception together with concordance in monozygotic twins and the existence of rare familial cases support the role of genetic factors such as de novo mutation of a dominant gene or subtle sub-microscopic chromosome rearrangement. Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.

Abnormalities, Multiple↗
PubMed1998

Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.

PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. Karyotyping as well as investigation of the PAX6 gene were performed. RESULTS: The karyotype of the patient disclosed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in situ hybridization and the search for mutations excluded direct implication of the PAX6 gene. CONCLUSION: This is, to our knowledge, the first report of a chromosomal abnormality detected in a patient with a Gillespie syndrome phenotype.

Abnormalities, Multiple↗
PubMed1998

Eye involvement in children's rheumatic diseases.

Rheumatoid paediatric diseases are a leading cause of uveitis in childhood. Juvenile chronic arthritis (JCA), juvenile onset spondyloarthropathies as well as sarcoidosis and other systemic diseases with arthritis may include ocular manifestations that can threaten vision, and especially so in juvenile chronic arthritis. Special risk factors concerning the eye have to be considered for JCA. The diagnosis, detection, follow-up studies and treatment in children may differ significantly from adult rheumatoid diseases because of the young age of the patients and the specific features and signs of ocular involvement. Medical and surgical treatment of such ocular manifestations may be challenging. Special attention to children's ophthalmic complications must be undertaken by paediatricians and ophthalmologists.

Age of Onset↗
PubMed1997

Unusual scotomas after transsphenoidal surgery of a pituitary macroadenoma.

The case of a woman presenting unusual bilateral campimetric defects following transphenoidal surgery is presented. The defects, consisting of a necklace of small round scotomas, disappeared after a corticosteroid treatment. A postoperative inflammatory mechanism may explain these unusual visual field abnormalities.

Adenoma↗
PubMed1996

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the earliest and most severe inherited retinal dystrophy in human and its genetic heterogeneity has long been recognised. We have recently reported on the first localisation of a disease gene (LCA1) to the short arm of chromosome 17 by homozygosity mapping in five families of North African origin. Here, we refine the genetic mapping of LCA1 to chromosome 17p13 between loci D17S938 and D17S1353 and provide strong support for the genetic heterogeneity of this condition (maximum likelihood for heterogeneity, 17.20 in InL; heterogeneity versus homogeneity, P = 0.0002, heterogeneity versus no linkage, P < 0.0001)

Blindness↗
PubMed1996

Insidious craniosynostosis and chronic papilledema in childhood.

PURPOSE: We studied a case of chronic papilledema in a 5-year-old child with visual loss who presented no obvious cosmetic abnormalities. METHODS: Neuroradiologic investigations were suggestive of craniosynostosis. The child underwent decompressive cranial surgery. Postoperatively, the papilledema totally regressed, and visual acuity recovered to 20/20 in both eyes. RESULTS: The chronic papilledema was confirmed to be related to harmonious oxycephaly. CONCLUSION: Insidious craniosynostosis is an unusual cause of chronic papilledema in childhood. The papilledema may be resolved and visual loss prevented by surgery.

Child, Preschool↗
PubMed1996

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

Leber's congenital amaurosis (LCA, MIM 204,000), the earliest and most severe form of inherited retinopathy, accounts for at least 5% of all inherited retinal dystrophies. This autosomal recessive condition is usually recognized at birth or during the first months of life in an infant with total blindness or greatly impaired vision, normal fundus and extinguished electroretinogram (ERG). Nystagmus (pendular type) and characteristic eye poking are frequently observed in the first months of life (digito-ocular sign of Franceschetti). Hypermetropia and keratoconus frequently develop in the course of the disease. The observation by Waardenburg of normal children born to affected parents supports the genetic heterogeneity of LCA. Until now, however, little was known about the pathophysiology of the disease, but LCA is usually regarded as the consequence of either impaired development of photoreceptors or extremely early degeneration of cells that have developed normally. We have recently mapped a gene for LCA to chromosome 17p13.1 (LCA1) by homozygosity mapping in consanguineous families of North African origin and provided evidence of genetic heterogeneity in our sample, as LCA1 accounted for 8/15 LCA families in our series. Here, we report two missense mutations (F589S) and two frameshift mutations (nt 460 del C, nt 693 del C) of the retinal guanylate cyclase (RETGC, GDB symbol GUC2D) gene in four unrelated LCA1 probands of North African ancestry and ascribe LCA1 to an impaired production of cGMP in the retina, with permanent closure of cGMP-gated cation channels.

Blindness↗
PubMed1995

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

OBJECTIVE: To define the phenotype of a retinal dystrophy associated with a 4-base pair insertion at codon 140 of the peripherin/RDS gene. PATIENTS: Six affected members spanning two generations of a single family were examined. Five were studied in detail electrophysiologically and psychophysically. METHODS: Psychophysical testing included color vision testing, photopic and scotopic static threshold perimetry, and dark adaptometry. Electrophysiological testing included flash and pattern electroretinography, as well as electrooculography. RESULTS: Clinical findings ranged from subtle pigmentary changes at the level of the retinal pigment epithelium to more widespread pigmentary changes associated with choroidal neovascularization. Those with severe fundus changes exhibited greater abnormalities in psychophysical and electrophysiological testing than those with minimal fundus changes. CONCLUSIONS: This particular peripherin/RDS gene mutation is associated with dominantly inherited pattern dystrophy of the retina. The phenotypic expression is variable in a manner not explained by age.

Aged↗
PubMed1995

A gene for Leber's congenital amaurosis maps to chromosome 17p.

Leber's congenital amaurosis (LCA) is an autosomal recessive disease responsible for congenital blindness. It is the most early and severe form of inherited retinopathy and accounts for 5% of all inherited retinal dystrophies. Here we report the first mapping of a gene for LCA to the distal short arm of chromosome 17 by linkage analysis in 15 multiplex families (Zmax = 5.14 at theta = 0.15 for probe AFM070xg5 at the D17S1353 locus). When our sample was split into two groups according to the ethnic origin of the patients we were able to confirm the presence of a gene for LCA on chromosome 17p by both homozygosity mapping and linkage analysis in five families of Maghrebian origin (LCA1, Zmax = 7.21 at theta = 0.01 at the D17S1353 locus), while negative results were found in 10 families of French ancestry. Haplotype analyses supported the placement of LCA1 between loci D17S796 and D17S786 (maximum likelihood estimate for location of the disease gene over the D17S1353 locus). The genetic heterogeneity of LCA will complicate the prenatal detection of this frequent cause of congenital blindness.

Blindness↗
PubMed1994

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

3',5'-Cyclic guanosine monophosphate is the intracellular second messenger regulating phototransduction in mammals. The level of cGMP in photoreceptor cells is controlled by the cGMP-hydrolyzing enzyme cGMP phosphodiesterase and the cGMP-producing enzyme guanylate cyclase. Identification of a photoreceptor-specific guanylate cyclase (retGC) that may function in visual transduction was recently reported. As an initial step in assessing the potential for defects in the retGC (GUC2D) gene to be causal of hereditary retinal disease, we have determined its chromosome location. A 720-bp region of the human GUC2D locus was amplified with exon-specific primers. The amplified product contains three introns, two intact exons, and part of two additional exons, suggesting a high degree of structural complexity. PCR analysis of human-rodent somatic cell hybrids was used to map the GUC2D locus to chromosome 17. This assignment was confirmed and a more precise localization to 17p13.1 was obtained by fluorescence in situ hybridization.

Animals↗
PubMed1993

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

Stargardt's disease (fundus flavimaculatus) is one of the most frequent causes of macular degeneration in childhood and accounts for 7% of all retinal dystrophies. It is an autosomal recessive condition characterized by a bilateral loss of central vision occurring at age 7-12 years. Genetic linkage analysis of eight families has assigned the disease locus to chromosome 1p21-p13. Multipoint linkage analysis and haplotype analysis has allowed us to establish the best estimate for location of the gene over the locus D1S435 (maximum lod score of 12.66). Our results are consistent with the genetic homogeneity of this condition.

Child↗