The Peters' plus syndrome: a review

Peters' plus syndrome is an infrequently described entity that combines anomalies in the anterior chamber of the eye with other multiple congenital anomalies, and a developmental delay. Major symptoms are extremely variable anterior chamber anomalies, cupid bow of the upper lip, cleft lip and palate, short stature, broad hands and feet, and variable mental delay. The syndrome follows an autosomal recessive pattern of inheritance. The etiology is unknown, but may involve abnormal neural crest development. A review of the pertinent literature is provided. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserve

Ocular straylight in albinism

Albinism is an inherited disorder that affects the melanin biosynthesis pathway, which results in reduced or absent pigment formation. This may lead to increased light transmission through the iris and more reflected light from the fundus. Both these effects contribute to the occurrence of ocular straylight. One aim of this study is to determine whether and how increased iris transmission and fundus reflection in subjects with albinism contributes to the occurrence of ocular straylight. The other aim is to determine the effect that an iris print-contact lens (CL) could have in terms of reducing the occurrence of ocular straylight. Ocular straylight was quantified by means of the straylight parameter s and measured as a function of angle and wavelength in 17 subjects with different types of albinism, none of whom wore an iris print-CL. The measurements were then repeated with the subjects wearing an iris print-CL to reduce the iris transmission component and thus the occurrence of ocular straylight. The contributions of transmission and reflectance components were estimated for each individual. Straylight level increase varied from normal (s ≈9) to severe (8x). In 15 cases, the reflectance component contributed s >3 to up to s = 17. In eight cases, the transmission component contributed s >3 to up to s = 101. A significant reduction in straylight was observed using an iris print-CL in six subjects with elevated straylight values. In the other 11 subjects with albinism, the iris print-CL had no significant effect on straylight because of the low values of the transmission component. This study gives insight into the effects of transmission and reflectance on the total measured straylight occurrence in subjects with albinism. Subjects experiencing increased ocular straylight values may benefit significantly from wearing iris print-CLs because transmission of light through the natural iris may cause a significant increase in strayligh

Long-term follow-up of the corneal endothelium after artisan lens implantation for unilateral traumatic and unilateral congenital cataract in children: two case series

PURPOSE: To retrospectively estimate the long-term corneal endothelial cell loss in children after perforating corneal trauma and implantation of an iris-fixated anterior-chamber intraocular lens (IOL), either the Artisan aphakia lens or the Artificial Iris Implant, and to compare this corneal endothelial cell loss to that in children who received an Artisan aphakia lens to correct aphakia after cataract extraction for unilateral congenital cataract. METHODS: A retrospective study was performed, evaluating the charts and endothelial photographs of 6 patients with unilateral traumatic cataract, with a mean age at IOL implantation of 9.5 years (range: 5.8-12.8 years) and a mean follow-up after IOL implantation of 10.5 years (range: 8.0-14.7 years), and of 3 children who were operated on for unilateral congenital cataract at a mean age of 2.7 years and who received an Artisan aphakia IOL, with a mean follow-up after IOL implantation of 9.5 years (range: 4.7-14.5 years). Parameters that were studied were central endothelial cell density (CECD) in both the operated and the normal eye at the last follow-up visit, percentage of cell loss in the operated eye compared with the normal eye, and length and location of the corneal scar in the injured eye. RESULTS:: In the traumatic cataract group, CECD was, on average, 41% (range: 22%-58%) lower in the operated eye (1.647 +/- 322 [SD] cells/mm) than the normal eye (2.799 +/- 133 cells/mm). A significant negative linear correlation was found between the length of the corneal perforation scar and CECD. In the congenital cataract group, no statistical difference in CECD was found between the operated (3.323 +/- 410 cells/mm) and the unoperated (3.165 +/- 205 cells/mm) eye. CONCLUSION: Endothelial cell loss 10.5 years after iris-fixated IOL implantation for traumatic cataract was substantial and related to the length of the corneal scar of the original trauma. In children operated on for congenital cataract, no difference was found in CECD in the operated and unoperated eyes 9.5 years after Artisan aphakia IOL implantatio

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands

Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. We investigated the NHS gene in four additional families with NHS from the Netherlands, by dHPLC and direct sequencing. We identified an unique mutation in each family. Three out of these four mutations were not reported before. We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorder

Anomalous relation between axial length and retinal thickness in amblyopic children

To investigate the relationship between retinal thickness and axial length in amblyopic eyes compared to healthy eyes. In this observational, transversal study, 36 amblyopic children and 30 healthy controls underwent full ophthalmological and orthoptic examinations, volume scanning of the macula with spectral domain optical coherence tomography (3D OCT-1000; Topcon Corporation, Tokyo, Japan), and measuring of axial length using the IOLMaster (Carl Zeiss Meditec AG, Jena, Germany). The average pericentral retinal thickness was calculated. A strong correlation was observed between the axial lengths of both eyes in the control group (R = 0.98, P < 0.01) and between the axial lengths of the amblyopic and fellow eye in the amblyopic group (R = 0.77, P < 0.01); the amblyopic and their fellow eyes were significantly shorter than the nonamblyopic control eyes. The pericentral retinal thickness of both eyes of an individual is highly correlated in nonamblyopic controls (R = 0.92, P < 0.01) and in amblyopic children (R = 0.82, P < 0.01). There is no significant difference in mean pericentral retinal thickness between healthy, amblyopic, and fellow eyes. In healthy eyes a moderate inverse correlation exists between axial length and pericentral retinal thickness (R = -0.41, P = 0.02); this relationship was not found in the amblyopic eyes or the normal fellow eye. In this patient cohort, there was an anomalous relation between the axial length and the pericentral retinal thickness in both amblyopic and their fellow eye

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness

To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary night blindness (CSNB) and to determine the genotype-phenotype correlations in CSNB1 and CSNB2. Clinic-based, longitudinal, multicenter study. A total of 39 patients with CSNB1 from 29 families and 62 patients with CSNB2 from 43 families. Patients underwent full ophthalmologic and electrophysiologic examinations. On the basis of standard electroretinograms (ERGs), patients were diagnosed with CSNB1 or CSNB2. Molecular analysis was performed by direct Sanger sequencing of the entire coding regions in NYX, TRPM1, GRM6, and GPR179 in patients with CSNB1 and CACNA1F and CABP4 in patients with CSNB2. Data included genetic cause of CSNB, refractive error, visual acuity, nystagmus, strabismus, night blindness, photophobia, color vision, dark adaptation (DA) curve, and standard ERGs. A diagnosis of CSNB1 or CSNB2 was based on standard ERGs. The photopic ERG was the most specific criterion to distinguish between CSNB1 and CSNB2 because it showed a "square-wave" appearance in CSNB1 and a decreased b-wave in CSNB2. Mutations causing CSNB1 were found in NYX (20 patients, 13 families), TRPM1 (10 patients, 9 families), GRM6 (4 patients, 3 families), and GPR179 (2 patients, 1 family). Congenital stationary night blindness 2 was primarily caused by mutations in CACNA1F (55 patients, 37 families). Only 3 patients had causative mutations in CABP4 (2 families). Patients with CSNB1 mainly had rod-related problems, and patients with CSNB2 had rod- and cone-related problems. The visual acuity on average was better in CSNB1 (0.30 logarithm of the minimum angle of resolution [logMAR]) than in CSNB2 (0.52 logMAR). All patients with CSNB1 and only 54% of the patients with CSNB2 reported night blindness. The dark-adapted threshold was on average more elevated in CSNB1 (3.0 log) than in CSNB2 (1.8 log). The 3 patients with CABP4 had a relative low visual acuity, were hyperopic, had severe nonspecific color vision defects, and had only 1.0 log elevated DA threshold. Congenital stationary night blindness 1, despite different causative mutations, shows 1 unique CSNB1 phenotype. Congenital stationary night blindness 2 caused by mutations in CABP4 merely shows cone-related problems and therefore appears to be distinct from CSNB2 caused by mutations in CACNA1F. The author(s) have no proprietary or commercial interest in any materials discussed in this articl