A practical guide to the management of anophthalmia and microphthalmia

Ragge, Nicola; Subak-Sharpe, Ian; Collin, J. R. O.

doi:10.1038/sj.eye.6702858

Cited by 106 publications

(92 citation statements)

References 50 publications

(31 reference statements)

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“…The chances of obtaining good VA are limited in cases of severe unilateral microphthalmos, where orbital growth may be retarded and facial deformity may develop. Early socket expansion and wearing of a prosthetic shell are important for cosmetic treatment in anophthalmos and extreme microphthalmos [20]. However, microphthalmos with visual potential should be assessed early and glasses prescribed to maximize the VA.…”

Section: Discussionmentioning

confidence: 99%

Survey of microphthalmia in Japan

et al. 2012

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Section: Discussionmentioning

confidence: 99%

Survey of microphthalmia in Japan

et al. 2012

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“…Recently, an expanding number of genes for isolated and syndromic AM has been identified, leading to new defined syndromes including the most prevalent SOX2 (MIM# 184429) [Fantes et al, 2003;Ragge et al, 2005b;Bakrania et al, 2007] and OTX2 (MIM# 600037) [Ragge et al, 2005a;Wyatt et al, 2008] AM syndromes. Although many dominant conditions are described, reviewed in various publications [Asai-Coakwell et al, 2007;Ragge et al, 2007;Verma and Fitzpatrick, 2007;White et al, 2008], relatively few recessive gene conditions for AM have been identified to date, including VSX2 (MIM# 142993) [Ferda Percin et al, 2000] and RAX (MIM# 601881) [Voronina et al, 2004] in isolated AM, STRA6 (MIM# 610745) [Pasutto et al, 2007] in syndromic AM, RAB3GAP1 in Warburg MICRO syndrome (MIM# (c.244A4G; p.Met82Val) in Family 1 shown with sequence and/or NlaIII restriction analysis. This mutation abolishes one of the two wild-type NlaIII digestion sites in amplified FOXE3 fragment.…”

Section: Introductionmentioning

confidence: 98%

Seeing clearly: the dominant and recessive nature ofFOXE3in eye developmental anomalies

et al. 2009

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FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment dysgenesis. Here, we identify new recessive FOXE3 mutations causative for microphthalmia, sclerocornea, primary aphakia, and glaucoma in two extended consanguineous families by SNP array genotyping followed by a candidate gene approach. Following an additional screen of 236 subjects with developmental eye anomalies, we report two further novel heterozygous mutations segregating in a dominant fashion in two different families. Although the dominant mutations were penetrant, they gave rise to highly variable phenotypes including iris and chorioretinal colobomas, Peters' anomaly, and isolated cataract (cerulean type and early onset adult nuclear and cortical cataract). Using in situ hybridization in human embryos, we demonstrate expression of FOXE3 restricted to lens tissue, predominantly in the anterior epithelium, suggesting that the extralenticular phenotypes caused by FOXE3 mutations are most likely to be secondary to abnormal lens formation. Our findings suggest that mutations in FOXE3 can give rise to a broad spectrum of eye anomalies, largely, but not exclusively related to lens development, and that both dominant and recessive inheritance patterns can be represented. We suggest including FOXE3 in the diagnostic genetic screening for these anomalies.

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“…Anophthalmia may be a result of a primary genetic defect or due to external factors such as infections or drugs that may influence the morphogenetic pathway that controls eye development [50 ]. Genetic diagnosis can help in providing a diagnosis, as recent investigations suggest that SOX2 haploinsufficiency is a common cause of severe ocular malformations and has been found in up to 10% of patients with severe microphthalmia or anophthalmia [51].…”

Section: Congenital Anophthalmiamentioning

confidence: 98%

Treatment of the anophthalmic socket

Quaranta‐Leoni¹

2008

Current Opinion in Ophthalmology

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Implant materials and wrapping, surgical technique and treatment of lid malpositions associated with postenucleation socket syndrome are all factors affecting the rehabilitation of patients with anophthalmia. Current clinical evidence does not support porous implants with respect to nonporous implants. The treatment of congenital anophthalmia is directed through a simultaneous stimulation of both soft tissue and bony orbital growth. Further studies with extensive follow-ups are necessary as adverse effects may develop many years after socket surgery.

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A practical guide to the management of anophthalmia and microphthalmia

Cited by 106 publications

References 50 publications

Survey of microphthalmia in Japan

Survey of microphthalmia in Japan

Seeing clearly: the dominant and recessive nature ofFOXE3in eye developmental anomalies

Treatment of the anophthalmic socket

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