High Prevalence of Plateau Iris Configuration in Family Members of Patients With Plateau Iris Syndrome

Etter, Jonathan; Affel, Elizabeth; Rhee, Douglas J.

doi:10.1097/01.ijg.0000212253.79831.7a

Cited by 15 publications

(11 citation statements)

References 8 publications

(7 reference statements)

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“…Although plateau iris has not been described previously in ARB, a study by Etter et al [35] suggests that it has a heritable component, with five of the ten patients studied with plateau iris syndrome having at least one affected first-degree family member. The authors likened this to an autosomal dominant pattern of inheritance with incomplete penetrance.…”

Section: Discussionmentioning

confidence: 94%

Autosomal recessive bestrophinopathy associated with angle-closure glaucoma

et al. 2014

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PurposeAbnormalities in the BEST1 gene have recently been recognised as causing autosomal recessive bestrophinopathy (ARB). ARB has been noted to have a variable phenotypic presentation, distinct from that of autosomal dominant Best vitelliform macular dystrophy (BVMD). Both conditions are associated with deposits in the retina, a reduced or absent electro-oculography (EOG) light rise, and the risk of developing angle-closure glaucoma. Herein, we describe the clinical and genetic characteristics of a young male diagnosed with ARB associated with angle-closure glaucoma resulting from a novel homozygous mutation in BEST1.MethodsAll research involved in this case adhered to the tenets of the Declaration of Helsinki. The proband underwent slitlamp examination, retinal autofluorescence imaging and optical coherence tomography after presenting with deteriorating vision. The findings prompted genetic testing with bi-directional DNA sequencing of coding and flanking intronic regions of BEST1. The proband’s family members were subsequently screened.ResultsA provisional diagnosis of ARB was made based on the findings of subretinal and schitic lesions on fundoscopy and retinal imaging, together with abnormal EOG and electroretinography. Genetic testing identified a novel homozygous mutation in BEST1, c.636+1 G>A. Family members were found to carry one copy of the mutation and had no clinical or electrophysiological evidence of disease. The proband was additionally diagnosed with angle-closure glaucoma requiring topical therapy, peripheral iridotomies and phacoemulsification.ConclusionsPhenotypic overlap, reduced penetrance, variable expressivity and the ongoing discovery of new forms of bestrophinopathies add to the difficulty in distinguishing these retinal diseases. All patients diagnosed with ARB or BVMD should be examined for narrow angles and glaucoma, given their frequent association with these conditions.

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Section: Discussionmentioning

confidence: 94%

Autosomal recessive bestrophinopathy associated with angle-closure glaucoma

et al. 2014

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“…Thus, in primary pretrabecular G, the angle narrowness and configuration (plateau iris) are genetically transmitted 11–13. In TRAG, genetic mutations have been described,14 and even families showing what is now called “normal tension G” have been identified 15.…”

Section: Methodsmentioning

confidence: 99%

A new classification of glaucomas

Bordeianu

2014

OPTH

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PurposeTo suggest a new glaucoma classification that is pathogenic, etiologic, and clinical.MethodsAfter discussing the logical pathway used in criteria selection, the paper presents the new classification and compares it with the classification currently in use, that is, the one issued by the European Glaucoma Society in 2008.ResultsThe paper proves that the new classification is clear (being based on a coherent and consistently followed set of criteria), is comprehensive (framing all forms of glaucoma), and helps in understanding the sickness understanding (in that it uses a logical framing system). The great advantage is that it facilitates therapeutic decision making in that it offers direct therapeutic suggestions and avoids errors leading to disasters. Moreover, the scheme remains open to any new development.ConclusionThe suggested classification is a pathogenic, etiologic, and clinical classification that fulfills the conditions of an ideal classification. The suggested classification is the first classification in which the main criterion is consistently used for the first 5 to 7 crossings until its differentiation capabilities are exhausted. Then, secondary criteria (etiologic and clinical) pick up the relay until each form finds its logical place in the scheme. In order to avoid unclear aspects, the genetic criterion is no longer used, being replaced by age, one of the clinical criteria. The suggested classification brings only benefits to all categories of ophthalmologists: the beginners will have a tool to better understand the sickness and to ease their decision making, whereas the experienced doctors will have their practice simplified. For all doctors, errors leading to therapeutic disasters will be less likely to happen. Finally, researchers will have the object of their work gathered in the group of glaucoma with unknown or uncertain pathogenesis, whereas the results of their work will easily find a logical place in the scheme, as the suggested classification remains open to any new development.

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“…Ultrasound biomicroscopy can verify the anteriorly rotated ciliary body in suspicious patients [16]. This congenital but progressive trait, inherited dominantly with variable penetrance [17], is common in younger or myopic patients with angle closure. The general prevalence of gonioscopic plateau iris configuration was 10.1% among 1330 eyes screened in southern China [18].…”

Section: Plateau Irismentioning

confidence: 99%