Structural organization of choroidal colobomas of young and adult patients and mechanism of retinal detachment

Schubert, Hermann

doi:10.1016/j.ajo.2006.06.026

Cited by 31 publications

(41 citation statements)

References 33 publications

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“…Knockdown of either nlz1 or nlz2 in zebrafish causes a failure of the optic fissure to close when compared to control fish at the same time points. The coloboma induced by nlz1 and/or nlz2 knockdown strongly resembles the clinical and pathologic findings in human eyes with uveal coloboma, including rosettes/retinal dysplasia and abnormal retinal vasculature (29,30). This makes both NLZ1 and NLZ2 intriguing candidates for human disease.…”

Section: Discussionmentioning

confidence: 83%

Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure

Brown

Dutta

Bharti

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

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The gene networks underlying closure of the optic fissure during vertebrate eye development are poorly understood. Here, we profile global gene expression during optic fissure closure using laser capture microdissected (LCM) tissue from the margins of the fissure. From these data, we identify a unique role for the C 2H2 zinc finger proteins Nlz1 and Nlz2 in normal fissure closure. Gene knockdown of nlz1 and/or nlz2 in zebrafish leads to a failure of the optic fissure to close, a phenotype which closely resembles that seen in human uveal coloboma. We also identify misregulation of pax2 in the developing eye of morphant fish, suggesting that Nlz1 and Nlz2 act upstream of the Pax2 pathway in directing proper closure of the optic fissure.coloboma ͉ eye ͉ pax2 ͉ zinc finger protein ͉ zebrafish T he mammalian eye begins as an evagination of forebrain neuroepithelium, the optic vesicle. As the optic vesicle approaches the surface ectoderm, it invaginates upon itself, forming a double-layered optic cup attached to the brain via the optic stalk. The asymmetric nature of this invagination leads to the formation of a gap along the ventral optic cup and optic stalk (the optic fissure) that remains open for hours to days, depending on the species. To form a spherical globe the margins of the optic fissure must meet and fuse ventrally during the 5th-7th

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Section: Discussionmentioning

confidence: 83%

Expression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closure

Brown

Dutta

Bharti

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

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“…Retinal detachment occurred in 2.9% of eyes that had prophylactic laser photocoagulation in comparison with 24.1% in eyes that did not have prophylactic laser photocoagulation. As histology shows that the margins of paediatric choroid colobomas are usually compromised, 19 strengthening or reinforcing these margins with laser to create a strong chorioretinal adhesion will reduce the risks of extracolobomatous retinal detachment. Pigmentation resembling laser scars and demarcation lines has been found in the margins of some colobomatous eyes, but its association with a lower incidence of RRD has not been reported.…”

Section: Discussionmentioning

confidence: 99%

“…Pigmentation resembling laser scars and demarcation lines has been found in the margins of some colobomatous eyes, but its association with a lower incidence of RRD has not been reported. 13,19,23,24 In managing RRD in eyes with coloboma, difficulties may arise because of locating the retinal breaks and creating an adequate chorioretinal adhesion. The presence of atrophic holes without the presence of flaps or operculae in thin rudimentary retina, poor visualization of breaks due to white sclera background, hidden breaks in overhanging edge of coloboma or in areas of haemorrhage, and absence of retinal pigment epithelium all contribute to these difficulties.…”

Section: Discussionmentioning

confidence: 99%

“…RRD in eyes with chorioretinal coloboma is thought to be secondary to a combination of breaks in the ICM and the presence of a communication between the sub-ICM space and subretinal space. 10,13,15,[18][19][20][21] There was one case (1.7%) of spontaneous reattachment of the retina following positioning. Although spontaneous retinal reattachment has been reported in the literature, most retinal detachments associated with chorioretinal coloboma require surgery and often have poor visual outcomes.…”

Section: Discussionmentioning

confidence: 99%

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Chorioretinal coloboma in a paediatric population

Uhumwangho

Jalali

2014

Eye

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Aim To determine the validity of laser photocoagulation as a prophylactic treatment in the prevention of rhegmatogenous retinal detachment (RRD) in a group of paediatric patients presenting with chorioretinal coloboma. Methods Observational case series of consecutive patients aged 0-15 years with chorioretinal coloboma seen in a tertiary eye hospital were reviewed. Data were analysed with SPSS version 16, a P-value of o0.05 was considered significant. Results One hundred and ninety-eight patients (335 eyes) were identified. The prevalence of retinal detachment and ocular anomalies was 17.6 and 87.2%, respectively. Ocular anomalies included iris coloboma (71%), microcornea (45.1%), nystagmus (41.5%), strabismus (21.2%), and microphthalmos (19.1%). The prevalence of retinal detachment was 2.9% in those eyes that received prophylactic laser photocoagulation, whereas the risk of retinal detachment was 24.1% in eyes left untreated. Post-operative complications following retinal detachment surgery occurred in 86.7% eyes; the most frequent being recurrent retinal detachment (53.8%). The mean duration of follow-up was 1.59 ± 0.21 years (0-7 years) and 0.79 ± 0.16 years (0-8 years) in the group that had laser and in those that were treatment naive, respectively. Conclusions Prophylactic laser treatment appears to have a protective effect for the prevention of RRD in eyes with chorioretinal coloboma. Measures towards prophylactic therapy should be instituted to reduce the risk of retinal detachment in choroid colobomatous eyes due to the problems in the management of these retinal detachments.

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“…1B). 2 Systemic abnormalities and syndromes associated with colobomas include trisomy 13 and 18, Potter's syndrome, CHARGE and VATER association, Joubert and Warburg syndromes, congenital heart disease, polydactyly, and holoprosencephaly. 3 The renal-coloboma syndrome is associated with a mutation of the PAX2 gene.…”

Section: Developmental and Inherited Conditions Colobomasmentioning

confidence: 99%