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Arquivos Brasileiros de Oftalmologia 2011This study aimed to know the most common ocular findings in children with congenital toxoplasmosis.
PURPOSE
This study aimed to know the most common ocular findings in children with congenital toxoplasmosis.
METHODS
This is a retrospective study carried out from a historical cohort, with a quantitative approach. We evaluated children referred to a pediatric infectious disease service and included only those with confirmed diagnosis of congenital toxoplasmosis. The ophthalmologic evaluation included regular fundus examination under pupil dilation.
RESULTS
Of 58 children presumably exposed to risk of the disease during the pregnancy, 20 had ocular lesions during the first year of life (34 eyes). Of these, 12 were asymptomatic at birth. Strabismus was noted in 14 children (70%). In one child there was ptosis, and another had decrease in the palpebral fissure (microphthalmia). Retinochoroiditis was the most common complication, present in all 20 children. Seven children (35%) showed unilateral changes and 13 children showed bilateral changes (65%), with emphasis on the location in the posterior pole and macula.
CONCLUSION
Retinochoroiditis and strabismus were outstanding as important sequelae of congenital toxoplasmosis.
Topics: Blepharoptosis; Child; Chorioretinitis; Cohort Studies; Female; Humans; Male; Microphthalmos; Qualitative Research; Retrospective Studies; Strabismus; Toxoplasmosis, Ocular
PubMed: 22068851
DOI: 10.1590/s0004-27492011000400005 -
The British Journal of Ophthalmology Dec 2007To report clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos.
AIM
To report clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos.
METHODS
A retrospective (up to 2003) and prospective (2004 onwards) study of the notes of 60 consecutive patients treated surgically with highly hydrophilic self-inflating expanders for congenital anophthalmos or severe blind microphthalmos between 1997 and 2006. The lacrimal drainage system was always probed and irrigated under general anaesthesia before any other procedure was started.
RESULTS
Nine patients were excluded due to possible misdiagnosis because of previous lid or orbit surgery elsewhere or due to missing data. The analysis therefore included 23 girls and 28 boys aged between 1 and 90 months (median age: 4 months). Twenty-three patients presented with unilateral and 18 with bilateral anophthalmos, and 10 had unilateral microphthalmos; consequently, 102 orbits (of which, 69 were with probable pathology) were available for assessment. In unilateral cases, the lacrimal system on the normal side was never affected. On the anophthalmic or microphthalmic side, the lacrimal system was normal in 17 orbits only (24.6%). The most frequent finding was canalicular stenosis (40 orbits; 58%). Common canaliculus stenosis was observed in 5 orbits (7.3%) and nasolacrimal duct obstruction in 7 orbits (10.1%). There were no cases of punctal anomaly.
CONCLUSIONS
In congenital clinical anophthalmos the lacrimal system is affected in up to 78% of cases, mostly due to canalicular stenosis. Even if there is no clear evidence of an embryological connection, this association is certainly not a random finding.
Topics: Anophthalmos; Blindness; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Lacrimal Apparatus; Lacrimal Duct Obstruction; Male; Microphthalmos; Nasolacrimal Duct; Prospective Studies; Retrospective Studies; Severity of Illness Index
PubMed: 17567663
DOI: 10.1136/bjo.2007.120121 -
Ophthalmic Genetics 2017To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma,...
To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects, and growth delays. We found two sequence variants in SALL4 - c.[575C>A], predicting p.(Ala192Glu), that was paternally inherited, and c.[2053G>C], predicting p.(Asp685His), that was maternally inherited. Haploinsufficiency for SALL4 due to nonsense or frameshift mutations has been associated with acro-renal ocular syndrome that is characterized by eye defects including Duane anomaly and coloboma, in addition to radial ray malformations and renal abnormalities. Our report is the first description of structural eye defects associated with two missense variants in SALL4 inherited in trans; the absence of reported findings in both parents suggests that both sequence variants are hypomorphic mutations and that both are needed for the ocular phenotype. SALL4 is expressed in the developing lens and regulates BMP4, leading us to speculate that altered BMP4 expression was responsible for the eye defects, but we could not demonstrate altered BMP4 expression in vitro after using small interfering RNAs (siRNAs) to reduce SALL4 expression. We conclude that SALL4 hypomorphic variants may influence eye development.
Topics: Coloboma; Exome; Female; Growth Disorders; Heart Septal Defects; Humans; Infant; Microphthalmos; Mutation, Missense; Optic Nerve Diseases; Pedigree; Phenotype; Polymerase Chain Reaction; Sequence Analysis, DNA; Transcription Factors
PubMed: 27661448
DOI: 10.1080/13816810.2016.1217550 -
Chang Gung Medical Journal Apr 2003This study presents magnetic resonance imaging (MRI) findings of both the anterior and posterior types of persistent hyperplastic primary vitreous (PHPV) to facilitate...
BACKGROUND
This study presents magnetic resonance imaging (MRI) findings of both the anterior and posterior types of persistent hyperplastic primary vitreous (PHPV) to facilitate the differential diagnosis from other intraocular abnormalities.
METHODS
Seventeen patients with PHPV who were evaluated using non-contrast and contrast-enhanced T1- and T2-weighted images were retrospectively reviewed.
RESULTS
Among the 17 patients with PHPV (6 males, 11 females), 13 had unilateral PHPV (11 left eyes, 2 right eyes), and 4 had bilateral PHPV. The MRI findings of the anterior type of PHPV included a shallow or collapsed anterior chamber, an anterior segment anomaly, and a retrolental vascular membrane which demonstrated hyperintensity after contrast enhancement. The MRI findings of the posterior type consisted of microphthalmos; a tubular image, representing the hyaloid vessel; a funnel-shaped retinal detachment, with the subretinal fluid hyperintense on both T1- and T2-weighted images; the fluid-fluid level, which was hypointense on both T1- and T2-weighted images and probably corresponded to the presence of hemorrhage in the subretinal space; a retrolental mass; and vitreous hemorrhage. The most common clinical presentations of patients with PHPV in our study were microphthalmos, a shallow or collapsed anterior chamber, and leukocoria.
CONCLUSIONS
The presentation of PHPV at different stages was variable; the MRI features of PHPV along with clinical findings were able to facilitate the differential diagnosis from other intraocular abnormalities such as retinoblastoma and Coats' disease.
Topics: Adolescent; Adult; Child; Child, Preschool; Diagnosis, Differential; Eye Abnormalities; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Tomography, X-Ray Computed
PubMed: 12846526
DOI: No ID Found -
American Journal of Medical Genetics.... Dec 2009SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in SOX2 are known to...
SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in SOX2 are known to result in a spectrum of severe ocular phenotypes in humans, also typically associated with other systemic defects. Ocular phenotypes include anophthalmia/microphthalmia (A/M), optic nerve hypoplasia, ocular coloboma and other eye anomalies. We screened 51 unrelated individuals with A/M and identified SOX2 mutations in the coding region of the gene in 10 individuals. Seven of the identified mutations are novel alterations, while the remaining three individuals carry the previously reported recurrent 20-nucleotide deletion in SOX2, c.70del20. Among the SOX2-positive cases, seven patients had bilateral A/M and mutations resulting in premature termination of the normal protein sequence (7/38; 18% of all bilateral cases), one patient had bilateral A/M associated with a single amino acid insertion (1/38; 3% of bilateral cases), and the final two patients demonstrated unilateral A/M associated with missense mutations (2/13; 15% of all unilateral cases). These findings and review of previously reported cases suggest a potential genotype/phenotype correlation for SOX2 mutations with missense changes generally leading to less severe ocular defects. In addition, we report a new familial case of affected siblings with maternal mosaicism for the identified SOX2 mutation, which further underscores the importance of parental testing to provide accurate genetic counseling to families.
Topics: Anophthalmos; Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; Female; Genotype; Humans; Male; Microphthalmos; Molecular Sequence Data; Mutation; Phenotype; SOXB1 Transcription Factors
PubMed: 19921648
DOI: 10.1002/ajmg.a.33098 -
BMC Ophthalmology Nov 2010Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and...
BACKGROUND
Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features.
CASE PRESENTATION
a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic macules on the left side of the face, chest, abdomen and limbs. Characteristic lobster claw deformity of left hand and oligodactyly and syndactyly of left foot were present.
CONCLUSIONS
FDH usually affects both sides of the body. This case represents the unusual unilateral manifestation of the syndrome.
Topics: Bone and Bones; Child, Preschool; Diagnosis, Differential; Female; Focal Dermal Hypoplasia; Humans; Muscle, Skeletal; Skin
PubMed: 21092077
DOI: 10.1186/1471-2415-10-28 -
The British Journal of Ophthalmology Nov 2007Developmental eye anomalies, which include anophthalmia (absent eye) or microphthalmia (small eye) are an important cause of severe visual impairment in infants and...
BACKGROUND
Developmental eye anomalies, which include anophthalmia (absent eye) or microphthalmia (small eye) are an important cause of severe visual impairment in infants and young children. Heterozygous mutations in SOX2, a SOX1B-HMG box transcription factor, have been found in up to 10% of individuals with severe microphthalmia or anophthalmia and such mutations could also be associated with a range of non-ocular abnormalities.
METHODS
We performed mutation analysis on a new cohort of 120 patients with congenital eye abnormalities, mainly anophthalmia, microphthalmia and coloboma. Multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridisation (FISH) were used to detect whole gene deletion.
RESULTS
We identified four novel intragenic SOX2 mutations (one single base deletion, one single base duplication and two point mutations generating premature translational termination codons) and two further cases with the previously reported c.70del20 mutation. Of 52 patients with severe microphthalmia or anophthalmia analysed by MLPA, 5 were found to be deleted for the whole SOX2 gene and 1 had a partial deletion. In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. The SOX2 phenotypes include a patient with anophthalmia, oesophageal abnormalities and horseshoe kidney, and a patient with a retinal dystrophy implicating SOX2 in retinal development.
CONCLUSION
Our results provide further evidence that SOX2 haploinsufficiency is a common cause of severe developmental ocular malformations and that background genetic variation determines the varying phenotypes. Given the high incidence of whole gene deletion we recommend that all patients with severe microphthalmia or anophthalmia, including unilateral cases be screened by MLPA and FISH for SOX2 deletions.
Topics: Adolescent; Adult; Anophthalmos; Child; Child, Preschool; DNA Mutational Analysis; Eye Abnormalities; Female; Gene Deletion; HMGB Proteins; Humans; In Situ Hybridization, Fluorescence; Male; Microphthalmos; Middle Aged; Phenotype; Polymerase Chain Reaction; SOXB1 Transcription Factors; Transcription Factors
PubMed: 17522144
DOI: 10.1136/bjo.2007.117929 -
Case Reports in Ophthalmological... 2012Congenital corneal anaesthesia (CCA) is an uncommon condition difficult to diagnose. We report the case of a 20-month-old boy who presented with unilateral congenital...
Congenital corneal anaesthesia (CCA) is an uncommon condition difficult to diagnose. We report the case of a 20-month-old boy who presented with unilateral congenital corneal anaesthesia. The child was referred with a persistent corneal epithelial defect, unresponsive to symptomatic local treatment for over 10 months. Intensive topical treatment and strict corneal protection led to quick corneal healing. Congenital corneal anaesthesia occurs either alone or in association with neurological diseases or systemic congenital abnormalities. It is important to search for corneal anaesthesia in children with chronic ulcerations of the cornea and self-inflicted injuries. Early diagnosis and treatment are important due to the risk of poor visual prognosis. Management of CCA should aim for the prevention of epithelial defects and is a life-long process.
PubMed: 22606500
DOI: 10.1155/2012/703183 -
American Journal of Human Genetics Dec 2000Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically...
Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040.
Topics: Adolescent; Adult; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 15; Coloboma; Female; Genes, Dominant; Genetic Linkage; Haplotypes; Humans; Jews; Lod Score; Male; Microphthalmos; Microsatellite Repeats; Pedigree; Penetrance
PubMed: 11035633
DOI: 10.1086/316894 -
Clinical Genetics Nov 2014Anophthalmia/microphthalmia (A/M) is a developmental ocular malformation defined as complete absence or reduction in size of the eye. A/M is a heterogenous disorder with...
Anophthalmia/microphthalmia (A/M) is a developmental ocular malformation defined as complete absence or reduction in size of the eye. A/M is a heterogenous disorder with numerous causative genes identified; however, about half the cases lack a molecular diagnosis. We undertook whole exome sequencing in an A/M family with two affected siblings, two unaffected siblings, and unaffected parents; the ocular phenotype was isolated with only mild developmental delay/learning difficulties reported and a normal brain magnetic resonance imaging (MRI) in the proband at 16 months. No pathogenic mutations were identified in 71 known A/M genes. Further analysis identified a shared heterozygous mutation in COL4A1, c.2317G>A, p.(Gly773Arg) that was not seen in the unaffected parents and siblings. Analysis of 24 unrelated A/M exomes identified a novel c.2122G>A, p.(Gly708Arg) mutation in an additional patient with unilateral microphthalmia, bilateral microcornea and Peters anomaly; the mutation was absent in the unaffected mother and the unaffected father was not available. Mutations in COL4A1 have been linked to a spectrum of human disorders; the most consistent feature is cerebrovascular disease with variable ocular anomalies, kidney and muscle defects. This study expands the spectrum of COL4A1 phenotypes and indicates screening in patients with A/M regardless of MRI findings or presumed inheritance pattern.
Topics: Adolescent; Amino Acid Sequence; Anophthalmos; Base Sequence; Child; Collagen Type IV; DNA Mutational Analysis; Exome; Eye; Family; Female; Genes, Dominant; Humans; Infant; Male; Microphthalmos; Molecular Sequence Data; Mutation; Pedigree; Phenotype
PubMed: 24628545
DOI: 10.1111/cge.12379