2019
DOI: 10.1007/s00439-019-01977-y
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Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

Abstract: Eye formation is the result of coordinated induction and differentiation processes during embryogenesis. Disruption of any one of these events has the potential to cause ocular growth and structural defects, such as anophthalmia and microphthalmia (A/M). A/M can be isolated or occur with systemic anomalies, when they may form part of a recognizable syndrome. Their etiology includes genetic and environmental factors; several hundred genes involved in ocular development have been identified in humans or animal m… Show more

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Cited by 80 publications
(96 citation statements)
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References 270 publications
(366 reference statements)
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“…In conclusion, the bilateral colobomata in our patient might well be a part of the clinical spectrum of Steel syndrome, even if our molecular evidence is only indirect and hypothetical, and does not rule out random coincidence, which is noteworthy given that genetic analyses of patients with colobomata prove the molecular basis in up to 75% of severe cases but only in 20–30% of milder cases of eye malformations from the anophthalmia/microphthalmia/coloboma spectrum (Harding, Brooks, FitzPatrick, & Moosajee, ; Plaisancié et al, ). We suggest detailed ophthalmological investigations in all individuals with this condition in order to investigate a possible association between structural eye defects and Steel syndrome.…”
Section: Discussionmentioning
confidence: 65%
“…In conclusion, the bilateral colobomata in our patient might well be a part of the clinical spectrum of Steel syndrome, even if our molecular evidence is only indirect and hypothetical, and does not rule out random coincidence, which is noteworthy given that genetic analyses of patients with colobomata prove the molecular basis in up to 75% of severe cases but only in 20–30% of milder cases of eye malformations from the anophthalmia/microphthalmia/coloboma spectrum (Harding, Brooks, FitzPatrick, & Moosajee, ; Plaisancié et al, ). We suggest detailed ophthalmological investigations in all individuals with this condition in order to investigate a possible association between structural eye defects and Steel syndrome.…”
Section: Discussionmentioning
confidence: 65%
“…The development of the human eye is controlled by a morphogenetic process that requires precise spatial and temporal gene regulation [1,2]. Perturbation of early eye organogenesis due to genetic factors can result in halting of eye development or multiple eye tissues disorders, and among them degenerations of the retina occupies a special place [3][4][5]. Inherited eye diseases make up a clinically and genetically heterogeneous group of diseases and mutations in which over 260 genes have been proven to be causative.…”
Section: Introductionmentioning
confidence: 99%
“…Genetic alterations are now a major cause of microphthalmos. The hereditary mode of nanophthalmos is autosomal dominant in many patients and sporadic in others [5,6]. As a developmental eye disease, most of the related genes involved in microphthalmos are also ocular developmentassociated genes, including SOX2, OTX2, PAX6, and GJA8.…”
Section: Introductionmentioning
confidence: 99%