Visual acuity in children with coloboma

Hornby, Stella J; Adolph, S; Gilbert, Clare; Dandona, Lalit; Foster, Allen

doi:10.1016/s0161-6420(99)00140-2

Cited by 80 publications

(23 citation statements)

References 32 publications

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“…Consistent with previous reports, patients with coloboma affecting the retina and optic nerve and those with microphthalmia have a more guarded visual prognosis. 8,9 Compared to Nakamura’s study, we found a lower prevalence of amblyopia (10% vs 33%) and strabismus (19% vs 30%) among our cohort of coloboma patients. Nonetheless, our clinical experience supports a trial of glasses and/or patching in patients with uveal coloboma—even those with significant posterior segment involvement—as some children respond to these measures.…”

Section: Discussioncontrasting

confidence: 61%

Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma

Huynh

Blain

Glaser

et al. 2013

American Journal of Ophthalmology

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PURPOSE To investigate the frequency and types of systemic findings in patients with apparently isolated uveal coloboma. DESIGN Cross-sectional observational study. METHODS SETTING Single-center ophthalmic genetics clinic. STUDY POPULATION Ninety-nine patients with uveal coloboma seen at the National Eye Institute. OBSERVATIONAL PROCEDURE Results of audiology testing, echocardiogram, brain magnetic resonance imaging, renal ultrasound, and total spine radiographs. MAIN OUTCOME MEASURE Prevalence of abnormal findings on systemic testing. RESULTS Uveal coloboma affected only the anterior segment in 8 patients, only the posterior segment in 23 patients, and both anterior and posterior segments in 68 patients. Best-corrected visual acuity (BCVA) of eyes with coloboma was ≥20/40 in 45% of eyes; 23% of eyes had BCVA of ≤20/400. The majority of patients (74%) had good vision (>20/60) in at least 1 eye. Ten of the 19 patients (53%) who underwent echocardiography had abnormalities, with ventral septal defects being the most prevalent. Abnormal findings were observed in 5 of 72 patients (7%) who had a renal ultrasound and in 5 of 29 patients (17%) who underwent a brain MRI. Audiology testing revealed abnormalities in 13 of 75 patients (17%), and spine radiographs showed anomalies in 10 of 77 patients (13%). Most findings required no acute intervention. CONCLUSIONS Although some patients with coloboma had evidence of extraocular abnormalities, the majority of findings on routine clinical examination did not require acute intervention, but some warranted follow-up. Results from the systemic evaluation of patients with coloboma should be interpreted with caution and in view of their clinical context.

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Section: Discussioncontrasting

confidence: 61%

Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma

Huynh

Blain

Glaser

et al. 2013

American Journal of Ophthalmology

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“…Ocular coloboma is believed to result from failure of normal closure of the optic fissure during embryonic eye development, termed optic fissure closure defect (OFCD) [1,2]. Coloboma can occur as an isolated anomaly (simple coloboma) but in most cases it is associated with additional ocular defects, including microphthalmia, cataract, retinal detachment, and ocular motility disorders [1–4].…”

Section: Introductionmentioning

confidence: 99%

“…Coloboma can occur as an isolated anomaly (simple coloboma) but in most cases it is associated with additional ocular defects, including microphthalmia, cataract, retinal detachment, and ocular motility disorders [1–4]. Microcornea, a reduction in the diameter of the cornea, is common in colobomatous eyes and can be associated with normal or even increased (macrophthalmic) axial length [2,3,5]. Additional systemic anomalies are present in a large proportion of patients with OFCDs including brain, skeletal, cardiac, or urogenital anomalies [3,4].…”

Section: Introductionmentioning

confidence: 99%

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

Kariminejad²,

et al. 2015

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Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de novo in the first affected generation of the three-generational pedigree. MAB21L2 encodes a protein similar to C. elegans mab-21 cell fate-determining factor; the molecular function of MAB21L2 is largely unknown. To further evaluate the role of MAB21L2, zebrafish mutants carrying a p.(Gln48Serfs*5) frameshift truncation (mab21l2Q48Sfs*5) and a p.(Arg51_Phe52del) in-frame deletion (mab21l2R51_F52del) were developed with TALEN technology. Homozygous zebrafish embryos from both lines developed variable lens and coloboma phenotypes: mab21l2Q48Sfs*5 embryos demonstrated severe lens and retinal defects with complete lethality while mab21l2R51_F52del mutants displayed a milder lens phenotype and severe coloboma with a small number of fish surviving to adulthood. Protein studies showed decreased stability for the human p.(Arg51Gly) and zebrafish p.(Arg51_Phe52del) mutant proteins and predicted a complete loss-of-function for the zebrafish p.(Gln48Serfs*5) frameshift truncation. Additionally, in contrast to wild-type human MAB21L2 transcript, mutant p.(Arg51Gly) mRNA failed to efficiently rescue the ocular phenotype when injected into mab21l2Q48Sfs*5 embryos, suggesting this allele is functionally deficient. Histology, immunohistochemistry, and in situ hybridization experiments identified retinal invagination defects, an increase in cell death, abnormal proliferation patterns, and altered expression of several ocular markers in the mab21l2 mutants. These findings support the identification of MAB21L2 as a novel factor involved in human coloboma and highlight the power of genome editing manipulation in model organisms for analysis of the effects of whole exome variation in humans.

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“…Congenital coloboma is a very rare birth defect with a prevalence of 0.5–0.7/10,000 live births ( 1 ). Congenital macular coloboma is characterized by well-circumscribed, punched out atrophic lesions in the macula ( 2 – 4 ).…”

Section: Introductionmentioning

confidence: 99%

“…It is usually sporadic, although autosomal dominant or other inheritance patterns may be followed. It is thought to be caused by the failure of normal closure of the optic fissure between 5 and 7 weeks of development ( 1 ). Macular coloboma can be classified into three types, namely pigmented macular coloboma, non-pigmented macular coloboma, and macular coloboma associated with abnormal vessels ( 7 ).…”

Section: Introductionmentioning

confidence: 99%

Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma

Gao

Chen

et al. 2017

Molecular Medicine Reports

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Congenital macular coloboma is characterized by defined punched out atrophic lesions of the macula. The present study aimed to investigate the genetic alterations of one Chinese sporadic patient with bilateral large macular coloboma. Complete ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, fundus photograph and fundus fluorescein angiography imaging, Pentacam, and optical coherence tomography were performed on the patient. Genomic DNA was extracted from leukocytes in a peripheral blood sample collected from the patient, the patient's unaffected family members and from 200 unrelated control subjects from the same population. Next-generation sequencing of the known genes involved in ocular disease was performed. The functional effects of the mutation were analyzed using Polymorphism Phenotyping (PolyPhen) and Sorting Intolerant From Tolerant (SIFT). One heterozygous bestrophin 1 (BEST1) mutation c.1037C>A (p.Pro346His, p.P346H) in exon 9 and one heterozygous regulating synaptic membrane exocytosis 1 (RIMS1) mutation c.3481A>G (p.Arg1161Gly, p.R1161G) in exon 23 were identified in the patient being investigated, but not in the unaffected family members or unrelated control subjects. Polyphen and SIFT predicted that the amino acid substitution p.P346H in the BEST1 protein is damaging. In addition, Polyphen predicted that the amino acid substitution p.R1161G in the RIM1 protein is damaging. The results of the current study have increased the mutation spectrums of BEST1 and RIMS1, and are valuable for improving the current genetic counseling process and developing novel therapeutic interventions for patients with macular coloboma.

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Visual acuity in children with coloboma

Cited by 80 publications

References 32 publications

Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma

Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma

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