Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family

Yamada, Koki; Tomita, Hiroaki; Kanazawa, Suketaka; Mera, Akiko; Amemiya, Tsugio; Niikawa, Norio

doi:10.1016/s0002-9394(99)00313-x

Cited by 16 publications

(14 citation statements)

References 25 publications

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“…These results were consistant with the results of previous studies. 7,13 The association of retinitis pigmentosa and posterior polar cataract has been reported by SaebF 15 and Yamada et al 5 Of course, one of our patients with bilateral cataract had retinitis pigmentosa; and his visual acuity did not reach more than 20/200 postoperatively.…”

Section: Eyesupporting

confidence: 61%

“…1,2 Although sporadic cases of this type of cataract exist, it is usually inherited in an autosomal-dominant manner. [3][4][5] Owing to the high rate of posterior capsule rupture, the management of posterior polar cataract has been a challenge even for the most skilled cataract surgeons. Osher et al 6 reported a 26% incidence of capsule rupture in a series of 31 cases and Vasavada and Singh 7 reported a 36% incidence in 22 cases.…”

Section: Introductionmentioning

confidence: 99%

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Posterior polar cataract: minimizing risk of posterior capsule rupture

Siatiri

Moghimi

2005

Eye

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Purpose To study a preferred technique of phacoemulsification in eyes with posterior polar cataract and report its outcome. Methods Under topical anesthesia, phacoemulsification was carried out after hydrodelination in 23 cases (38 eyes) with ages ranging from 19 to 65 years (mean ¼ 33.5 years). Hydrodissection was not performed. Results Mean duration of follow-up was 9.5 months. None of the eyes developed posterior capsule rupture, but seven eyes (18.4%) revealed posterior capsule plaque postoperatively, which needed neodymium : YAG laser capsulotomy. Mean visual acuity improved significantly after surgery (P ¼ 0.0001, paired t-test); In all, 34 eyes achieved a best-corrected visual acuity of 20/40 or more (89.4%). However, the postoperative visual acuity was less than 20/25 in 11 eyes (28.9%). The causes of the low acuity were amblyopia in eight eyes (21.0%) and macular degeneration due to retinitis pigmentosa in two others (5.2%). Conclusion Phacoemulsification is an effective and safe method to treat posterior polar cataract with gentle hydrodelination 'hydrodissection free phacoemulsification technique'. This is especially true when great attention is paid to the 'floppy' posterior capsule. Although previous amblyopia might interfere with excellent surgical outcome in patients with a unilateral or highly asymmetric bilateral cataract, visual acuity improved significantly in most cases.

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Section: Eyesupporting

confidence: 61%

Section: Introductionmentioning

confidence: 99%

Posterior polar cataract: minimizing risk of posterior capsule rupture

Siatiri

Moghimi

2005

Eye

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“…Clinical data of the family have been described in detail elsewhere, and the cataract seen in 10 of them is referred to as CPP3. 21 In brief, representative manifestations of the disease include bilateral, disc-shaped, posterior polar cataracts, which progress gradually with diffuse cortical opacities, although variable expressivity is present within the family. The time of surgery also varied significantly.…”

Section: Family Studymentioning

confidence: 99%

“…CPP3 is a new clinical form of autosomal dominant cataract characterized by bilateral, discshaped posterior polar opacities which grow larger and denser, progress with cortical opacities, and finally lead to total cataract. 21 Two autosomal dominant forms of CPP, CPP1 and CPP2, have been identified. Maumenee 3 reported a loose linkage (Z max = 1.8, θ = 0) of CPP1 to the haptoglobin gene at 16q, and Ionides et al 4 mapped CPP2 to 1p36 (Z map = 3.14, θ = 0).…”

Section: Cpp3 Locus Maps To 20p12-q12 K Yamada Et Almentioning

confidence: 99%

“…17 Autosomal dominant congenital cataracts including above loci have been reviewed recently. [18][19][20][21] We previously identified a new form of CPP, defined as CPP3 (or CTPP3), in a Japanese family in which 10 members in four generations were affected, and a genetic study excluded all known autosomal dominant congenital cataract loci. 21 Here we report the results of a genome-wide two-point linkage analysis of this CPP3 family.…”

Section: Introductionmentioning

confidence: 99%

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An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12

et al. 2000

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We assigned the locus for a previously reported new type of autosomal dominant posterior polar cataract (CPP3) to 20p12-q12 by a genome-wide two-point linkage analysis with microsatellite markers. CPP3 is characterized by progressive, disc-shaped, posterior subcapsular opacity. The disease was seen in 10 members of a Japanese family and transmitted in an autosomal dominant fashion through four generations. We obtained a maximum lod score (Z max ) of 3.61 with a recombination fraction (θ) of 0.00 for markers D20S917, D20S885 and D20S874. Haplotype analysis gave the disease gene localization at a 15.7-cM interval between D20S851 and D20S96 loci on chromosome 20p12-q12. Since the BFSP1 that encodes the lens-specific beaded filament structural protein 1 (filensin) has been mapped around the CPP3 region, we performed sequence analysis on its entire coding region. However, no base substitution or deletion was detected in the CPP3 patients. The mapping of the CPP3 locus to 20p12-q12 not only expands our understanding of the genetic heterogeneity in autosomal dominant posterior polar cataracts but also is a clue for the positional cloning of the disease gene.

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