RESUMEN
Para la corrección quirúrgica de la afaquia existen en la actualidad varias técnicas quirúrgicas que permiten fijar los lentes intraoculares plegables o rígidos en cámara posterior suturados al iris o al sulcus ciliar. En estas circunstancias el cirujano determinará cuándo, dónde y el tipo de lente mejor a implantar. Se presenta un paciente con una afaquia traumática del ojo izquierdo, con agudeza visual sin corrección de movimiento de mano a 1 m. Se le realizó implante secundario de lente intraocular plegable de cámara posterior suturada al iris. En el examen biomicroscópico en lámpara de hendidura del ojo izquierdo se observó midriasis media paralítica, refracción dinámica de +11,00 (0,6) y tensión ocular normal. Se le realizó examen por bimicroscopía indirecta sin alteración. Al mes de operado la agudeza visual mejor corregida alcanzó la unidad de visión. Las complicaciones presentadas fueron ovalización de la pupila y depósitos de pigmentos de iris en el lente intraocular(AU)
There are several surgical techniques for the surgical correction of aphakia, which allow fixing foldable or rigid intraocular lenses in the posterior chamber by suturing them to iris or to ciliary sulcus. Under these circumstances, the surgeon will determine the time, the place and the type of lenses that is better to be implanted. This is a patient with traumatic aphakia in his left eye, with visual acuity without correction equals to hand movement at 1 m distance. He was performed a secondary implantation of a iris-sutured posterior chamber foldable intraocular lens. In the biomicroscopic exam of the left eye using the slit lamp, there was observed mean paralytic midriasis, dynamic refraction of +11,00 (0.6) and normal ocular pressure. He also underwent an indirect biomicroscopy with no alteration. After a month of his surgery, the best corrected visual acuity reached the vision unit. The complications found were ovalization of pupil and iris pigment depots in the intraocular lens(AU)
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Afaquia/complicaciones , Lentes Intraoculares Fáquicas/efectos adversos , Microscopía con Lámpara de HendiduraRESUMEN
Para la corrección quirúrgica de la afaquia existen en la actualidad varias técnicas quirúrgicas que permiten fijar los lentes intraoculares plegables o rígidos en cámara posterior suturados al iris o al sulcus ciliar. En estas circunstancias el cirujano determinará cuándo, dónde y el tipo de lente mejor a implantar. Se presenta un paciente con una afaquia traumática del ojo izquierdo, con agudeza visual sin corrección de movimiento de mano a 1 m. Se le realizó implante secundario de lente intraocular plegable de cámara posterior suturada al iris. En el examen biomicroscópico en lámpara de hendidura del ojo izquierdo se observó midriasis media paralítica, refracción dinámica de +11,00 (0,6) y tensión ocular normal. Se le realizó examen por bimicroscopía indirecta sin alteración. Al mes de operado la agudeza visual mejor corregida alcanzó la unidad de visión. Las complicaciones presentadas fueron ovalización de la pupila y depósitos de pigmentos de iris en el lente intraocular(AU)
There are several surgical techniques for the surgical correction of aphakia, which allow fixing foldable or rigid intraocular lenses in the posterior chamber by suturing them to iris or to ciliary sulcus. Under these circumstances, the surgeon will determine the time, the place and the type of lenses that is better to be implanted. This is a patient with traumatic aphakia in his left eye, with visual acuity without correction equals to hand movement at 1 m distance. He was performed a secondary implantation of a iris-sutured posterior chamber foldable intraocular lens. In the biomicroscopic exam of the left eye using the slit lamp, there was observed mean paralytic midriasis, dynamic refraction of +11,00 (0.6) and normal ocular pressure. He also underwent an indirect biomicroscopy with no alteration. After a month of his surgery, the best corrected visual acuity reached the vision unit. The complications found were ovalization of pupil and iris pigment depots in the intraocular lens(AU)
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Afaquia/complicaciones , Lentes Intraoculares Fáquicas/efectos adversos , Microscopía con Lámpara de Hendidura/estadística & datos numéricosRESUMEN
PURPOSE: To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico. METHODS: Ophthalmic examinations were conducted on each family member to confirm their diagnosis and magnetic resonance imaging (MRI) or ultrasonography of the eyes was performed on some family members. Genomic DNA was analyzed by homozygosity mapping using the Affymetrix 6.0 SNP array and linkage was confirmed with polymorphic microsatellite markers. Candidate genes were sequenced. RESULTS: A diagnosis of autosomal recessive sclerocornea was established for 7 members of the Pakistani and 8 members of the Mexican pedigrees. In the Pakistani family we established linkage to a region on chromosome 1p that contained Forkhead Box E3 (FOXE3), a strong candidate gene since FOXE3 mutations had previously been associated with various anterior segment abnormalities. Sequencing FOXE3 identified the previously reported nonsense mutation, c.720C>A, p.C240X, in the Pakistani pedigree and a novel missense mutation which disrupts an evolutionarily conserved residue in the forkhead domain, c.292T>C, p.Y98H, in the Mexican pedigree. Individuals with heterozygous mutations had no ocular abnormalities. MRI or ultrasonography confirmed that the patients with sclerocornea were also aphakic, had microphthalmia and some had optic disc coloboma. CONCLUSIONS: This is the fourth report detailing homozygous FOXE3 mutations causing anterior segment abnormalities in human patients. Previous papers have emphasized aphakia and microphthalmia as the primary phenotype, but we find that the initial diagnosis - and perhaps the only one possible in a rural setting - is one of non-syndromic, bilateral, total sclerocornea. Dominantly inherited anterior segment defects have also been noted in association with heterozygous FOXE3 mutations. However the absence of any abnormalities in the FOXE3 heterozygotes described suggests that genetic background and environmental factors plays a role in the penetrance of the mutant allele.