Congenital cataract extraction with primary aphakia and secondary intraocular lens implantation in the ciliary sulcus.

PURPOSE: To evaluate the results of cataract extraction without primary intraocular lens (IOL) implantation in children. SETTING: Ophthalmology Unit, University Hospital, Strasbourg, France. METHODS: This retrospective study comprised 157 congenital cataract cases (55 bilateral and 47 unilateral) treated between 1985 and 2001. Evaluated were the functional results (visual acuity, binocular vision) and factors influencing the prognosis (age at surgery, stage of cataract development, associated pathology, postoperative complications). In all patients, cataract extraction was via the pars plana and anterior vitrectomy was performed, leaving a peripheral capsular collarette in place. Postoperatively, all the patients were fitted with glasses or contact lenses, after which they had secondary implantation of an IOL in the ciliary sulcus. RESULTS: The functional results were similar to those in the literature for eyes with or without an IOL. Nevertheless, the literature reports a 25% risk for reoperation in the first 2 years after implantation and secondary vitrectomy for reopacification of the visual axis in 20% of bilateral cases and 38% of unilateral cases. CONCLUSIONS: Our functional results indicate that in cases of bilateral congenital cataracts, initial rehabilitation with aphakic correction and secondary IOL implantation leads to a predictable postoperative refraction and fewer complications. Visual rehabilitation in unilateral aphakia was more difficult because of poor compliance with contact lenses, generally leading to a preference for early IOL implantation.

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

PURPOSE: Several ocular defects have been identified as a consequence of the PAX6 gene mutations. With regard to the implication of this gene in unusual phenotypes, we report a family presenting with congenital nystagmus, foveal hypoplasia, and iris hypoplasia or atypical coloboma. DESIGN: Observational case report. METHODS: The entire transcribed region of the PAX6 gene was submitted to mutation search at the DNA and mRNA levels in five affected members of a French family in test with 82 normal subjects. RESULTS: A novel heterozygous PAX6 gene splice mutation (IVS4 + 5G>C) was identified. The mutation is located in IVS4 within the consensus donor splice site. A mutant mRNA lacking exon 4 as the sole defect was evidenced. The resultant protein was predicted to contain a cryptic ATG initiation codon in exon 3 and a slightly altered paired-domain in an open reading frame extended by 13 amino acids. CONCLUSIONS: The association of anterior segment anomalies and foveal hypoplasia with one of the slightest alterations of the PAX6 protein described to date confirms the association of variant phenotypes with hypomorphic alleles. Mutation screening of the PAX6 gene could be useful in elucidating the origin of complex ocular malformations.

Comparison of enzyme-linked immunosorbent assay, immunoblotting, and PCR for diagnosis of toxoplasmic chorioretinitis.

Ocular toxoplasmosis is the major cause of posterior uvetis in European populations. The clinical diagnosis of toxoplasmic chorioretinitis is based upon ophthalmoscopic findings, which are often but not always typical. Laboratory testing is therefore important to confirm the etiology of the disease. In the present 2-year prospective study, the relative diagnostic sensitivities of the three analytical techniques (enzyme-linked immunosorbent assay [ELISA], immunoblotting, and PCR) were compared by using a group of patients (n = 19) with suspected ocular toxoplasmosis. The relative specificities of the three techniques were assessed by including two control groups of patients: one with nontoxoplasmic and noninflammatory ocular disease (n = 48) and the other with nontoxoplasmic and inflammatory ocular disease (n = 20). All 19 of the clinically suspect patients had serological evidence of exposure to Toxoplasma gondii: 17 had been previously infected, and 2 had current infection. The analysis of paired aqueous humor and serum samples by ELISA and immunoblotting revealed the local production of specific antibodies of the immunoglobulin G type in 63% (12 of 19) and 53% (10 of 19) of patients, respectively. PCR analysis of aqueous humor samples confirmed the presence of T. gondii DNA in 28% (5 of 18) of cases. When combined, ELISA, immunoblotting, and PCR findings confirmed the toxoplasmic origin of retinal lesions in 83% (15 of 18) of patients. The relative specificities of the three techniques were 89% for ELISA and immunoblotting and 100% for PCR.

Ocular manifestations in the inherited DNA repair disorders.

Deoxyribonucleic acid (DNA) repair is a fundamental process designed to keep the integrity of genomic DNA that is continuously challenged by intrinsic or environmental induced alterations. Numerous genes involved in DNA repair have been cloned and are involved in different DNA repair pathways: base excision repair, nucleotide excision repair, mismatch repair, DNA recombination. Inherited conditions due to mutations in DNA repair genes include mainly: xeroderma pigmentosum, Cockayne syndrome, Trichothiodystrophy, Bloom syndrome, Rothmund-Thomson syndrome, and Werner syndrome. Minor to major ocular manifestations occur in these syndromes. For example, eyelid skin cancers in xeroderma pigmentosum and retinal dystrophy in Cockayne syndrome are major features of these syndromes. This review focuses on the DNA repair pathways, the general and ocular features of the related syndromes, the laboratory tests useful for diagnosis, and the general processes implied with DNA repair (ultraviolet sensitivity, carcinogenesis, apoptosis, oxydative stress, and premature aging).

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning-fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria.