Klippel-Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes.

Objective: Klippel-Feil syndrome is characterized by faulty segmentation of two or more cervical vertebrae and, in its most severe form, consists of massive cervical vertebral fusion, short neck, low posterior hairline, and limitation of head movement. Several cases associating Klippel-Feil syndrome with situs inversus totalis have been reported. In the present study, we describe the clinical features of a novel case of Klippel-Feil syndrome associated with situs inversus totalis and searched for mutations in GDF1, GDF3 and GDF6 genes, which were recently implicated in the development of skeletal and visceral anomalies.

Prevalence of high-risk alleles in the LOXL1 gene and its association with pseudoexfoliation syndrome and exfoliation glaucoma in a Latin American population.

Purpose: Pseudoexfoliation syndrome (XFS) is a major risk factor for exfoliation glaucoma (XFG). A significant association exists between XFG and several SNPs in the lysyl oxidase-like 1 (LOXL1) gene. The purpose of this study was to report the results of the first association study between LOXL1 polymorphisms and XFS and/or XFG in a Latin American population.

Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, hypertrichosis, intellectual disability, and absence and/or hypoplasia of the nails or terminal phalanges of the hands and feet. The syndromic features of ZLS are highly variable and can overlap with other entities featuring gingival fibrosis. This study describes a patient with ZLS with novel findings, including colpocephaly, hemivertebra, polydactyly, hyperpigmentation, and hemihyperplasia.

Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor.

Fibrosis of the extraocular muscles can be an acquired or congenital disorder (CFEOM). The congenital disorder(1) is a complex strabismus with congenital restrictive ophthalmoplegia with or without ptosis. The surgery is challenging because the eye muscles are replaced by fibrous tissue or fibrous bands and in most cases the results are not satisfactory.

Ocular involvement and blindness secondary to linear IgA dermatosis.

A 43-year-old man with linear immunoglobulin A (IgA) dermatosis associated with gluten intolerance presented with progressive vision loss, pain and photosensitivity in both eyes. His visual acuity was light perception (LP) in both eyes. A physical examination revealed bullous, papular lesions with erythematous borders in periocular tissues, limbs, and thorax.

Spontaneous Rotation of a Toric Implantable Collamer Lens.

We present a case of toric implantable collamer lens (TICL) spontaneous rotation in a patient with myopic astigmatism. A 23-year-old female underwent TICL implantation. Preoperative uncorrected visual acuity (UCVA) was 20/800 and 20/1200, respectively, with -7.

Amniotic membrane is an immunosuppressor of peripheral blood mononuclear cells.

Unlabelled: Amniotic membrane (AM) is the inner layer of the placenta, which is in contact with the fetus; it has been used for transplantation in ocular surface diseases. It has been reported that amniotic membrane promotes epithelialization, inhibits angiogenesis and diminishes ocular inflammation. A persistent epithelial defect is the delay in epithelial wound healing caused by infiltrating inflammatory cells into the cornea and amniotic membrane transplantation has been successfully used in its treatment, however the mechanism of action in inhibiting inflammation it is not well understood.

OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.

Purpose: Best disease is an autosomal dominant retinal degeneration characterized by the presence of yellow lesions in the macula causing decreased central visual acuity at later stages. Best disease is caused by heterozygous mutations in BEST1, a gene located at chromosome 11q13. In the present study, we describe the clinical and molecular analysis of two multigenerational families with Best disease and correlate the optical coherence tomography (OCT) findings in asymptomatic and symptomatic subjects carrying BEST1 mutations.

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

Background/aims: Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can arise from prenatal exposure to teratogens, mutations in well-defined genes originate potentially heritable forms of MAC. Mutations in genes such as CHX10, GDF6, RAX, SOX2 and OTX2, among others, have been recognised in dominant or recessive MAC.

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

Purpose: To present the results of molecular analysis of the NDP gene in Mexican families with Norrie disease (ND) and X-linked familial exudative vitreoretinopathy (XL-FEVR).

Methods: Two unrelated families with ND and two with XL-FEVR were studied. Clinical diagnosis was suspected on the basis of a complete ophthalmologic examination.

Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.

Background: von Hippel-Lindau disease (VHL) is an uncommon autosomal dominant condition predisposing to the development of tumours in a variety of body organs and caused by germline mutations in VHL, a tumour suppressor gene located on 3p. Up to 60% of VHL patients show ocular involvement with retinal hemangioblastoma being the most common observed lesion. In this study, we describe the clinical and genetic characteristics of two familial and one apparently non-familial case of VHL ascertained at our institution.

Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.

Objective: Autosomal dominant (AD) inheritance accounts for 15-20% of retinitis pigmentosa (RP) familial cases. The characterization of AD RP-related mutations remains essential because it provides both accurate diagnosis and clinically important prognostic information. Rhodopsin (RHO) and peripherin/RDS are the two most common mutated genes in AD RP in several series.

One-year follow-up of toric intraocular lens implantation in forme fruste keratoconus.

We present 2 cases of toric intraocular lens implantation for keratoconus: A 55-year-old man with forme fruste keratoconus with a preoperative uncorrected distance visual acuity (UDVA) of 20/800 and a refraction of -6.50-3.00x135 and a 46-year-old man with a claw-shaped topographic pattern, a family history of keratoconus, and a UDVA of 20/800 with a refraction of -5.

Study of the expression of CD30 in pterygia compared to healthy conjunctivas.

Purpose: The pterygium is characterized by a fibrovascular neoformation from the bulbar conjunctiva into the cornea. The recent discovery that abnormal markers associated with tumor diseases are identified in the pterygium strengthens the theory that the pterygium is a tumor-like disease rather than a degenerative disease. The CD30 molecule has been identified in neoplastic and normal epithelial proliferating cells.

CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.

Choroideremia is an X-linked recessive retinal dystrophy characterized by progressive loss of the photoreceptor, the retinal pigment epithelium, and the choriocapillaris layers which ultimately can result in blindness by the fifth decade of life. The disease is caused by mutations in the gene CHM, which encodes a protein involved in the regulation of intracellular vesicular traffic. Typically, hemizygous males are affected by the disease and female carriers are asymptomatic with only a diffuse mottled pattern of hyperpigmentation on funduscopy.

Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.

Purpose: We describe the clinical phenotype of a Mexican family segregating Duane syndrome as an autosomal-dominant trait linked to chromosome 2q31 (DURS2) and previously reported to harbor a heterozygous alpha2-chimaerin missense mutation.

Methods: A 5-generation Mexican family was analyzed. Ten affected subjects were available for clinical examination.

Outbreak of epidemic keratoconjunctivitis caused by adenovirus in medical residents.

Purpose: The present work documents an outbreak of epidemic keratoconjunctivitis among ophthalmology residents, its influence in the presentation of the community cases, the use of molecular techniques for its diagnosis, and the implementation of successful control measures for its containment.

Methods: Isolation of the etiologic agent was achieved using cultured African green monkey kidney epithelial cells (VERO). Through molecular tests, such as polymerase chain reaction (PCR) and DNA sequencing, the genotype of the isolated virus was identified.

Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.

Background: Oculopharyngeal muscular dystrophy (OPMD) is a late onset hereditary myopathy of autosomal dominant transmission characterised by ptosis, dysphagia and limb weakness. The disease is caused by short heterozygous expansions of a (GCN)(10) triplet located in the first exon of the PABPN1 gene at chromosome 14q11.1.

Comparative expression analysis of aquaporin-5 (AQP5) in keratoconic and healthy corneas.

Purpose: Keratoconus (KC) is a common progressive corneal disease characterized by excessive stromal thinning, central or paracentral conical protrusion, and disruptions in Bowman's layer. The etiology of KC is largely unknown, and a combination of genetic and environmental factors is believed to play a role in the origin of the disease. Recently, the absence of transcripts of the water channel, aquaporin-5 (AQP5), was demonstrated by reverse-transcription polymerase chain reaction (RT-PCR) in KC tissues and was proposed as a possible marker for KC.

Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.

Purpose: The frequency of primary congenital glaucoma (PCG)-causing CYP1B1 mutations varies importantly among distinct populations, ranging from 20% in Indonesians and Japanese to about 100% among the Saudi Arabians and Slovakian Gypsies. Thus, the molecular characterization of large groups of PCG from different ethnic backgrounds is important to establish the actual CYP1B1 contribution in specific populations. In this work, the molecular analysis of the CYP1B1 gene in a group of Mexican PCG patients is reported.

Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy.

Purpose: To report the clinical and genetic analysis of a Mexican female patient with a sporadic Bietti's crystalline corneoretinal dystrophy.

Methods: Ophthalmological examination included best-corrected visual acuity, slit lamp examination, applanation tonometry, fundus photography, fluorescein retinal angiography, Goldmann kinetic perimetry, corneal rotating Scheimpflug imaging, and anterior segment optical coherence tomography (Visante OCT). Genetic analysis included PCR amplification and direct nucleotide sequencing of the entire CYP4V2 gene in DNA from the propositus and her relatives.

A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.

Oculodentodigital dysplasia (ODDD) is an autosomal dominant disorder that includes a clinical spectrum of craniofacial, neurologic, limb, and ocular malformations. The disease is caused by heterozygous mutations in the 6q22-q23 located GJA1 gene, that encodes connexin 43 (Cx43). In this paper we describe a novel Cx43 mutation (G2V) found in a Mexican eight-year-old boy.

Bilateral keratectasia after photorefractive keratectomy.

Purpose: To report the clinical features, management, and outcome of a patient who developed bilateral ectasia after photorefractive keratectomy (PRK).

Methods: Case report of a 35-year-old man who underwent bilateral PRK. Preoperative uncorrected visual acuity was 20/200 in the right eye and 20/100 in the left eye.

The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.

Purpose: To report the clinical, molecular, and histopathological features of a distinct transforming growth factor-beta-induced (TGFBI) gene-linked amyloidotic corneal dystrophy exhibiting an unusual lattice pattern.

Methods: A complete ophthalmologic examination was performed in 10 individuals of a Mexican family in which autosomal dominant transmission of the disease was observed. DNA was obtained from peripheral blood leukocytes of each participating subject.

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

Purpose: To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, that segregates as an autosomal recessive trait in a family with four affected siblings. The membrane-type frizzled-related protein (MFRP) and CEH10 homeodomain-containing homolog (CHX10) genes, previously implicated in autosomal recessive forms of nanophthalmos/microphthalmos, were analyzed as candidate genes for this novel disease.

Methods: Complete ophthalmologic examinations were performed in four affected siblings and their parents.