Acral peeling skin syndrome associated with a novel CSTA gene mutation.

Acral peeling skin syndrome (APSS) is a rare autosomal recessive condition, characterized by asymptomatic peeling of the skin of the hands and feet, often linked to mutations in the gene TGM5. However, more recently recessive loss of function mutations in CSTA, encoding cystatin A, have been linked with APSS and exfoliative ichthyosis. We describe the clinical features in two sisters with APSS, associated with a novel large homozygous deletion encompassing exon 1 of CSTA.

Efecto de la cirugía de las cataratas congénitas unilaterales sobre el crecimiento ocular axial y el aplanamiento corneal / Effect of unilateral congenital cataract surgery on ocular axial length growth and corneal flattening

OOBJETIVO: Estudiar el efecto de la cirugía de las cataratas congénitas unilaterales sobre el crecimiento ocular y el aplanamiento corneal. MÉTODOS: Realizamos un estudio transversal sobre 59 pacientes intervenidos de cataratas congénitas unilaterales. La mediana de edad de los pacientes en el momento del diagnóstico fue de 17 meses (rango intercuartílico: 5-39 meses), la mediana de edad en el momento de la intervención fue de 28 meses (rango intercuartílico: 8-52 meses) y el tiempo medio de seguimiento fue de 149,7 ± 69,9 meses (rango: 30-319 meses). Se midió la longitud axial y la curvatura corneal de ambos ojos en todos los pacientes, tanto los operados de catarata congénita como los no operados. Estos valores fueron comparados entre sí. RESULTADOS: No se evidencian diferencias estadísticamente significativas entre ambos ojos (operados y no operados) respecto a la longitud axial (p = 0,327, prueba t de Student) ni a la curvatura corneal (p = 0,078, prueba t de Student). Al realizar un subanálisis dependiendo de la agudeza visual y la edad de los pacientes en el momento de la intervención, encontramos diferencias estadísticamente significativas solo respecto a la longitud axial en el grupo de pacientes que no presentan ambliopía profunda (p = 0,007, prueba t de Student), con menor longitud axial en los ojos intervenidos respecto a los ojos sanos. CONCLUSIONES: No encontramos cambios significativos en el crecimiento axial de los ojos intervenidos de catarata congénita unilateral respecto a sus ojos adelfos. Solo encontramos menor longitud axial en los ojos intervenidos con respecto a los ojos sanos en el grupo que no presentaba ambliopía profunda. No se hallaron diferencias respecto al aplanamiento corneal en los ojos operados con respecto a los ojos adelfos tras la cirugía de las cataratas congénitas unilaterales

OBJECTIVE: The aim of this article is to study the effect of unilateral congenital cataract surgery on ocular growth and corneal flattening. METHODS: This is a cross-sectional study of 59 patients operated on due to a unilateral congenital cataract. The median age of the patients at the time of diagnosis was 17 months (interquartile range, 5-39 months). The median age at cataract the time of surgery was 28 months (interquartile range, 8-52 months), and the mean follow-up between cataract surgery and assessments was 149.7 ± 69.9 months (range, 30-319 months). Axial length and corneal curvature were measured in both operated and non-operated eyes, comparing the results between them. RESULTS: There were no statistically significant differences for axial length growth or corneal flattening between operated and non-operated eyes: axial length (P=.327, Student t test) and corneal curvature (P=.078, Student t test). A sub-analysis was performed using the visual acuity and the age of the patient at the time of surgery. The only statistically significant data (P=.007, Student t test) was a lower axial length in operated eyes compared to non-operated eyes, in the non-deep-amblyopia group. CONCLUSIONS: No significant axial length growth modifications were observed between operated and non-operated eyes. Only the non-deep-amblyopia group presented with a lower axial length in the operated eyes compared to non-operated eyes. No significant differences in corneal flattening were found between groups after unilateral congenital cataract surgery

[Importance of studying the accommodation function in the diagnosis of clinical forms of hypermetropia]. / Znachenie issledovaniia funktsii akkomodatsii dlia diagnostiki klinicheskikh form gipermetropii.

Two hundred and thirty-one patients, aged 6 to 18, with hypermetropia were examined. They were shared between two groups with respect to an accommodation state: group 1--patients with weak accommodation, group 2--patients with normal accommodation. The below ocular parameters were registered for groups 1 and 2, respectively: axial size--22.35 mm and 21.58 mm, corneal diameter--11.48 mm and 10.74 mm, scleral ring diameter in the projection of the scleral central portion--14.66 mm and 13.98 mm, ocular refracting power--59.79 d and 62.23 d, corneal refraction--41.85 d and 42.82 d, and lens refraction--22.05 d and 24.03 d. New clinical signs were specified for uncomplicated type of congenital hypermetropia. The parameters of patients with normal-accommodation hypermetropia are typical of axial hypermetropia in adults due to growth inhibition, while the parameters of patients with weakened accommodation are typical of optical hypermetropia as a variation of normal eye development.

Córnea plana congênita: relato de caso e revisäo de literatura / Congenital cornea plana: case report

Objetivo: Descrever os casos de dois irmäos com diagnóstico de córnea plana congênita bilateral e alta hipermetropia, uma vez que näo temos, no Brasil, conhecimento de referências anteriores sobre famílias afetadas por tal entidade. Relato dos casos: Dois irmäos com grave aplanamento corneal, "esclerizaçäo" limbar, opacidade estromal central, achatamento da câmara anterior, elevada hipermetropia e pseudo-ptose. Discussäo: Córnea plana congênita é uma entidade extremamente rara, característica desta entidade que neste caso, ao lado da distribuiçäo familiar, corrobora com o diagnóstico de córnea plana congênita com herança autossômica recessiva. Chama-se a atençäo para o erro de refraçäo e prevençäo do glaucoma, cuja incidência está aumentada nestes casos.

Results of laser in situ keratomileusis in hyperopic compound astigmatism.

PURPOSE: To evaluate the efficacy and safety of steepening the flatter meridian with laser in situ keratomileusis (LASIK) to correct hyperopic compound astigmatism using the Schwind-Keratom laser with the MultiScan System and the active tracking system for centering the ablation. SETTING: Instituto Barraquer de América, Bogotá, Colombia. METHODS: From June to December 1997, LASIK was performed in 111 eyes to correct congenital hyperopic compound astigmatism. Preoperatively, the mean spherical equivalent was +2.58 diopters (D) (range +1.50 to +3.50 D) in 37 eyes (low dioptric group), with a mean sphere of +3.66 D (range +1.75 to +5.50 D) and a mean cylinder of -2.11 D (range -0.50 to -5.00 D); +4.71 D (range +3.51 to +6.00 D) in 50 eyes (middle dioptric group), with a mean sphere of +5.58 D (range +4.00 to +7.00 D) and a mean cylinder of -1.83 D (range -0.50 to -4.50 D); and +7.26 D (range +6.01 to +10.00 D) in 24 eyes (high dioptric group), with a mean sphere of +8.25 D (range +6.50 to +10.00 D) and a mean cylinder of -1.98 D (range -0.50 to -4.00 D) in 24 eyes. Postoperative results were measured at 10 days and 6 months. RESULTS: At 6 months, the mean residual subjective spherical defect was +0.32 D (range -0.50 to +1.00 D) in the low dioptric group, with a mean cylinder of -0.61 D (range 0.00 to -1.75 D); all eyes were within +/- 1.00 D of emmetropia. The mean defect was +0.82 D (range 0.00 to +2.50 D) in the middle dioptric group, with a mean cylinder of -0.61 D (range 0.00 to -2.50 D); 80% of eyes were within +/- 1.00 D of emmetropia. The mean defect was +1.10 D (range -0.50 to +3.00 D) in the high dioptric group, with a mean cylinder of -1.39 D (range 0.00 to -3.25 D); 77% of eyes were within +/- 1.00 D of emmetropia. In the study group as a whole, 90% of eyes had a cylinder correction within +/- 1.00 D of emmetropia. Uncorrected visual acuity (UCVA) was 0.50 (20/40) or better in 23.4% of eyes preoperatively and 0.50 (20/40) or better in 71.0% 6 months postoperatively. CONCLUSIONS: Steepening the flatter meridian with the MultiScan System safely and effectively corrected hyperopic astigmatism. The rapid recovery of UCVA was due not only to correction of the ametropia, but also to the centering provided by the active tracking system.

Leber's congenital amaurosis associated with high hyperopia in four sisters.

The authors describe a family with five daughters, of whom four are affected with Leber's congenital amaurosis and high hyperopia ranging between +5.5 and +9 diopters. In addition, the second daughter is a little short for her age, and shows a slight dyscrania with prominent frontal and occipital bones, hypoplasia of the nasal bone, and deep and narrow orbits leading to marked enophthalmos. The symptoms are typical of Leber's amaurosis. All children have nystagmus, night blindness, weak or absent pupillary reflexes. Visual fields are constricted or not measurable. The electroretinogram is extinguished, and hyperopia of the axial type was confirmed by ultrasound. Fundus findings are variable with small, pale and somewhat protruding papillae (pseudo-papillitis), narrow retinal vessels, diffuse fundus pigmentation of pepper-and-salt type and unusual yellow coloration of the macular region (diffuse atrophy). The inheritance of Leber's congenital amaurosis is autosomal recessive. The combined occurrence of amaurosis and hyperopia in four children in one family, while the fifth is unaffected and has no refractive error, furnishes a further evidence for the existence of a particular amaurosis-hyperopia subtype of Leber's disease.

[Refractive errors in visually handicapped children]. / Refraktionsanomalien bei sehbehinderten Kindern.

Aside from hereditary juvenile macular dystrophy (Stargardt's disease), the author observed a significant increase in the incidence of spheric and astigmatic refractive errors in a further six hereditary or congenital deformities with poor vision. A shift toward myopia was seen in cases of coloboma, both of the optic nerve head as well as of the macular region, and in cases of macular aplasia and hypoplasia. A shift toward hyperopia was found in complete and ocular albinism, in retinitis pigmentosa and congenital achromatopsia. This hyperopic shift is in contradiction to the hypothesis that myopia can be deprivation-induced. It is assumed that a disturbance of visual stimulation early in life can disrupt emmetropization and thus induce the eye to become either myopic or hyperopic, in combination with a high incidence of astigmatism. This disturbance of visual stimulation may be due to clouding of the dioptric media, though equally to congenital or hereditary defects in the retina or the visual pathways of visual cortex.

Results of hypermetropic keratomileusis, 1980-1981.

The series of cases discussed in this chapter consisted of 135 consecutive cases performed in 120 patients over a two-year period. The first group consisted of 10 cases of hypermetropia with a mean spherical equivalent of +7.75 diopters, a mean uncorrected acuity of 0.14 (20/150) and a mean best corrected acuity of 0.42 (20/50). The mean postoperative spherical equivalent was +1.00, the uncorrected acuity was 0.41 (20/50), and the best corrected acuity was 0.63 (20/30). A second group of 14 cases of monocular aphakia had mean preoperative spherical equivalents of +14.25 and best corrected acuity of 0.62 (20/30). Postoperatively the uncorrected acuity was approximately 0.19 (20/100-), the mean spherical equivalent was +2.85, and the best corrected acuity improved to 0.64 (20/30). The third and largest group consisted of 111 eyes that underwent simultaneous cataract extraction and hypermetropic keratomileusis. Since many of these patients had cataracts, the mean preoperative acuities and refractive errors cannot be adequately analyzed. In the 1980 group, which consisted of 67 cases, postoperatively the average acuity without correction was 0.21 (20/100+) with spherical equivalents of approximately +2.70 diopters. The acuity with the best correction was approximately 0.60 (20/30). In the second group of 40 cases, operated on in 1981, that underwent simultaneous cataract extraction and hypermetropic keratomileusis with a follow-up time half that of the 1980 group, the results were approximately the same.

The eyes of young chickens grow toward emmetropia.

The distribution of refractive errors was followed in chicks from hatching to 8 weeks of age. A dramatic progressive decrease in the variability of refractions was observed over this period. In addition, there appeared to be a parallel decline in hyperopia, even when the artifactual hyperopia of retinoscopy was taken into account. These results are evidence for a postnatal development regulatory mechanisms, most likely dependent on vision, which directs growth of the eye toward emmetropia.

Visual development.

This paper summarizes the postnatal development of the visual system in a format that separates the various parts and functions into Input Components, Transmitting Components, Integrative Mechanisms, and Visually Induced Cognitive Behaviour. This treatment of a number of studies and philosophies that comprise the field of infants' vision indicates that most components and mechanisms are fully operative by the end of the second year of life.

Accommodative esotropia during the first year of life.

Two infants developed accommodative esotropia during their first six months of life. One infant, whose age at onset was 4 1/2 months, had 4.50 diopters of hyperopia. The second infant, whose age at onset was 5 months, had 3.50 diopters of hyperopia. In both infants, the eyes completely aligned with hyperopic correction. Two points are stressed. First, when the amount of hyperopia exceeds +3.00, consideration should be given to an accommodative element as the cause of the esotropia, even if the child is only 4 to 6 months old. Second, even with small angles of esotropia, an accommodative element should be considered, if there is a substantial amount of hyperopia.