Biomedical subjects

H Dollfus

Publications and source records attributed to H Dollfus.

39 records · Page 3Linked to original sources

PubMed1992

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

Usher syndrome (US) is an autosomal recessive disease characterized by congenital hearing impairment and retinitis pigmentosa. It is the most frequent cause of deaf-blindness in adults and accounts for 3 to 6% of deaf children. Here, we report the genetic mapping of a gene for US type I (USH1A), the most severe form of the disease, to the long arm of chromosome 14, by linkage to probe MLJ14 at the D14S13 locus in 10 families of Western France ancestry (Z = 4.13 at theta = 0). Among them, 8 families originated from a small area of the Poitou-Charentes region (Z = 3.78 at theta = 0), suggesting that a founder effect could be involved. However, since not all US type I families were found to be linked to this locus, the present study provides evidence for genetic heterogeneity of this condition (heterogeneity versus homogeneity test HOMOG, P < 0.05; heterogeneity versus no linkage, P < 0.01).

Chromosome Mapping↗

PubMed1992

Mapping the eye diseases.

In this review the authors first give an overview of the general strategies of mapping which differ whether the biochemical (molecular) defect of the disease is known or not. The main problems besides mapping are concerned for the first category with the correlation between mutation and phenotype and for the second, with heterogeneity, genetic vs phenotypic. Finally, tables are displayed of eye diseases or diseases with eye involvement (metabolic or not) which have been currently mapped, as well as candidate genes actually or putatively involved in visual transduction.

Chromosome Mapping↗

PubMedDate not supplied

Long-term results of trabeculectomy for congenital glaucoma.

BACKGROUND: To evaluate long-term results of intraocular pressure after trabeculectomy for congenital glaucoma. METHODS: Data concerning 55 eyes (30 patients) who underwent trabeculectomy for congenital glaucoma were recorded. Mean age at diagnosis was 3.4 months (range: 2 days to 10 months). Mean follow up was 56.8 months. Associated anterior segment abnormalities, need for one or more new trabeculectomy procedures during follow up, and intraocular pressure at the last examination were noted. RESULTS: Of the 55 eyes, 48 met the success criteria (87.3%). A second and sometimes third or fourth trabeculectomy were necessary during follow up in 17 eyes (31%). Of the seven failures at final examination, six (85%) had been diagnosed and operated on before the age of 1 month, whereas 15 of the 48 eyes with good results (31.2%) were in this group (p < 0.02). Of the seven failures at final examination, six (85%) were operated on two to four times, whereas 10 of the 48 eyes with good results (20.1%) were in this group (p < 0.01). An associated anterior segment abnormality was present in 13 eyes (23%), and did not seem to influence the final outcome. CONCLUSION: Trabeculectomy is an effective procedure for long-term control of intraocular pressure in congenital glaucoma. The early diagnosis and surgical treatment correspond to a poor long-term prognosis, probably related to initially severe cases. In these cases, intraocular pressure is difficult to control despite repeated surgical procedures.

Chi-Square Distribution↗