Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

Primary congenital glaucoma (PCG), a rare, severe and blinding disease, usually results from mutations in the CYP1B1 gene located in chromosome 2p22.2. Uniparental isodisomy (UPID) is also a rare condition in which a diploid offspring carries two identical copies of a single parental chromosome. By DNA sequence analysis, we found that a proband (female newborn) affected by PCG was homozygous for the null-allele F261L of the CYP1B1 gene. Her father was a heterozygous carrier for this mutation, and unexpectedly her mother carried only the G168D mutation in the heterozygous state. Segregation analysis of eight microsatellite markers which spanned the two arms of chromosome 2 was consistent with paternal isodisomy for this chromosome in the proband. To the best of our knowledge, this is the first reported case of UPID resulting in PCG and the fifth reported case of paternal UPID for chromosome 2. In addition, the absence of a clinical phenotype other than PCG confirms previous observations of there being no paternally imprinted genes in chromosome 2 that have major phenotypic effects. These results, along with previous reports, also suggest that UPID may play a relevant role in recessive diseases linked to chromosome 2.

[Radioimmunometric assay of neuron specific enolase in aqueous humor and serum in patients with retinoblastoma]. / Determinación radioinmunométrica de la enolasa neuronal específica en humor acuoso y suero, en pacientes con retinoblastoma.

INTRODUCTION: Retinoblastomas (RB) are the most common malignant intraocular tumors in childhood. The neuron specific enolase (NSE) is used as a tumor marker in different malignant diseases (mainly in neuroblastomas and lung carcinoma of small cells). In this work we report our experience using NSE and the role we consider that it plays in the determination of this enzyme in RB cases. MATERIALS AND METHODS: NSE determinations in aqueous humor (AH) and serum were carried out in 17 RB by means of a radioimmunometric assay and were compared with those values obtained in a control group composed of 8 subjects in whom the RB diagnosis as well as other diseases that could alter its determination had been ruled out. The possible correlation between NSE levels and different tumor stages (Reese-Elsworth and histological-clinical), as well as the tumor type (exophytic and mixed) were also studied. RESULTS: NSE levels were increased in AH and serum in 88% of RB patients and were normal in all the subjects in the control group (when a sample which was considered to be non-valid due to the presence of red cells in AH was excluded). No correlation between NSE levels in AH and serum and the different tumor stages was found. Nevertheless, the RB group of mixed tumor type showed a significantly higher mean in AH (p<0.01) than the RB exophytic group. CONCLUSION: NSE determination in AH is of value in the differential diagnosis in patients in whom RB is suspected but difficult to diagnose as well as in the diagnosis of relapses. Serum determinations are mainly useful in the follow-up and in the early diagnosis of possible metastases.

Diffuse unilateral subacute neuroretinitis in Europe.

BACKGROUND: Diffuse unilateral subacute neuroretinitis is thought to be caused by a solitary helminth migrating within the subretinal space. Laser photocoagulation of the located worm is the preferred mode of therapy. METHODS: We describe the clinical and electrophysiological features of a case of a 15-year-old Caucasian male with a longstanding diffuse unilateral subacute neuroretinitis (DUSN), in whom two worms were seen in the fundus examination. Focal photocoagulation of the worms was applied as treatment. RESULTS: No signs of inflammation could be seen after treatment. Three months later, the patient was doing well. Follow-up examination 4 years later revealed an unchanged fundus appearance in the affected eye, with no evidence of progression of the syndrome. CONCLUSIONS: If a worm is identified in DUSN, focal laser treatment of the located area is the treatment of choice, regardless of whether fundus changes suggest late stages of the disease. However, the eye of the patient should be thoroughly examined to rule out the presence of more than one worm that might cause the failure of therapy.

Comparison of intersecting trapezoidal keratotomy and arcuate transverse keratotomy in the correction of high astigmatism.

BACKGROUND: High astigmatism can be corrected using trapezoidal or arcuate transverse keratotomies. Videokeratography enables qualitative evaluation of the corneal topography. METHODS: Fifty-five eyes of 41 patients presenting with high astigmatism after penetrating keratoplasty or naturally occurring astigmatism (mean, 6.29 diopters [D]; range, 3.00 to 16.00 D) underwent correction using either intersecting trapezoidal or arcuate transverse keratotomies. Corneal topographic maps were analyzed and classified into keratographic patterns. Mean follow up was 3 years (range, 1 to 6 years). RESULTS: The mean net decrease in refractive astigmatism was 3.60 D (52.7% reduction). The flattening/steepening ratio was on average higher for intersecting trapezoidal keratotomy (7.26 for astigmatism after penetrating keratoplasty and 8.31 for naturally occurring astigmatism) than for arcuate transverse keratotomy (.98 in astigmatism after penetrating keratoplasty and 1.76 in naturally occurring astigmatism). Accordingly, intersecting trapezoidal keratotomy tended to produce a hyperopic shift in the spherical equivalent refraction (mean hyperopic shift, 2.65 and .56 D, respectively). The mean vector-corrected change of refractive astigmatism after intersecting trapezoidal keratotomy was 88.8% in naturally occurring (n = 21 eyes) and 70.3% in penetrating keratoplasty astigmatism (n = 13). Arcuate transverse incisions corrected on average 79.9% of naturally occurring (n = 13) and 60.8% of penetrating keratoplasty astigmatism (n = 8). Videokeratography showed the asymmetric bowtie pattern as the most frequent pattern for both procedures. Intersecting trapezoidal keratotomy was characterized by relatively higher incidences of polygonal and irregular patterns. Arcuate transverse incisions caused less wound healing defects and glare than intersecting trapezoidal keratotomy. CONCLUSIONS: Both intersecting trapezoidal keratotomy and arcuate transverse incisions effectively reduced high naturally occurring astigmatism and astigmatism after penetrating keratoplasty. However, greater corneal surface irregularity and more complications were seen following intersecting trapezoidal keratotomy. Trapezoidal keratotomy should not be used unless a large decrease of myopia is needed, and then a nonintersecting technique is preferable.

Digital system measurement of decentration of Worst-Fechner iris claw myopia intraocular lens.

BACKGROUND: Topography measures the centration in refractive and corneal refractive surgery, but until recently there was no effective method to measure decentration in intraocular lens (IOL) implantation. PATIENTS AND METHODS: We measured the decentration of 22 phakic eyes, in 14 high myopic patients, based upon photographs of the anterior segment using a digital analysis system (IMAGEnet Topcon Corporation 1988, Tokyo, Japan). These eyes had undergone IOL implantation for the correction of myopia with Worst-Fechner iris claw lenses. Decentration was measured with respect to the centers of both the cornea and pupil. RESULTS: Mean decentration of the IOL center from the cornea center was 0.51 +/- 0.25 mm (range, 0 to 0.8374 mm). When measured with respect to the center of the pupil, the average decentration was 0.47 +/- 0.29 mm (range, 0.182 to 0.9341 mm). A positive correlation between the decentration measurements of the two methods was found (p < .01 indicated statistical significance). CONCLUSIONS: This digital imaging system (IMAGEnet) accurately measured decentration of IOLs in myopic eyes.