An Investigation Into the Mode of Heredity of Congenital and Juvenile Cataracts

Sæbø, Johan

doi:10.1136/bjo.33.10.601

Cited by 17 publications

(4 citation statements)

References 2 publications

(2 reference statements)

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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: Eyementioning

confidence: 88%

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: Eyementioning

confidence: 88%

Posterior polar cataract: minimizing risk of posterior capsule rupture

Siatiri

Moghimi

2005

Eye

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“…Nevertheless, isolated juvenile or congenital cataracts seem rarely to be genetically determined and autosomal recessive in transmission. Saebo [1949] reported on families in whom congenital or juvenile cataracts occurred. In several, multiple sibs were affected, and consanguinity was encountered among the parents of some.…”

Section: Discussionmentioning

confidence: 97%

Juvenile cataract in Hutterites

Shokeir

Lowry

1985

Am. J. Med. Genet.

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Isolated juvenile or congenital cataract is a rare disorder. It occurs commonly as part of a more generalized or systemic condition or as a component of a syndrome. When encountered per se it may be genetically determined. The inheritance then often is autosomal dominant; autosomal recessive transmission of isolated juvenile cataract is rare. Here we present, four sibships from an extensive kindred including nine individuals affected with juvenile (or congenital) cataracts. The kindred belongs to the Lehrerleut Hutterite group from the provinces of Saskatchewan and Alberta in Canada and the state of Montana in the United States. Apart from the cataracts, all the patients were healthy and of normal growth and development. Specifically, no metabolic disorder could be identified. Intellect, hearing and behavior were all normal and the patients were neurologically intact. Furthermore, there were no other ocular lesions aside from the cataracts. In this kindred cataracts appear to be a recessive trait.

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“…Her parents and grandparents and her 8 sibs and their 12 children had no signs of cataract. It is of interest to note that M,15 comes from the same part of south Norway from which Saebo's patients with autosomal recessive juvenile cataract originated (Saebo 1949). Therefore, it is not quite unlikely that the mother of X,27 is a heterozygote (carrier) of the mutant cataract gene and that the cataract in three successive generations (IX,14,X,27 and XI,47) could be due to a recessive and not a dominant mutation.…”

Section: Discussionmentioning

confidence: 99%

“…Systematic studies on a large number of sporadic cases or on sibships with many affected members have only been reported by Saebo (1949), who has described 12 families in Telemark, a rural district in south Norway. Apart from families showning other anomalies, Saebo described two families with total congenital cataract, one family with posterior and anterior capsular cataract and two families with nuclear cataract.…”

mentioning

confidence: 99%

Juvenile cataract with autosomal recessive inheritance

Forsius

Arentz‐Grastvedt²,

Eriksson

1992

Acta Ophthalmologica

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Juvenile (including congenital and infantile) cataract occurs commonly as part of a more generalized or systematic condition, or as a component of a syndrome. Isolated juvenile cataract is a relatively rare disorder and the mode of inheritance is often autosomal dominant. Autosomal recessive transmission of isolated juvenile cataract is rare. The present paper is a report of 15 cases of juvenile cataract on the Aland Islands (Finland) with about 23,000 inhabitants. Twelve belong to 7 sibships of two different pedigrees and 3 cases are sporadic, of which we have found no genealogical connections in the last 6-10 generations to the two cataracta pedigrees. One of the sporadic cases presented an operated cleft palate and a chromosomal anomaly. In another sporadic case the mother probably had been infected with rubella during early gestation. In the third sporadic case the cataract was combined with partial aniridia, but he has several genealogical connections to one of the cataract pedigrees. Consanguinity between the parents was detected in 5 of the 7 sibships, in some even on various ancestral levels. Apart from the cataracts, all patients were healthy, with normal intellect, behavior, hearing, growth and development. They were neurologically intact and there were no ocular lesions apart from cataract. In the Alandic familial cases the cataracts appear to be an autosomal recessive trait. A family branch originating from southwestern Sweden and south Norway showed transmission of the cataract in three successive generations. The possibility of quasi-dominant inheritance is discussed against the background that autosomal recessive juvenile cataract may not be so rare as the small number of recorded cases would suggest.(ABSTRACT TRUNCATED AT 250 WORDS)

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An Investigation Into the Mode of Heredity of Congenital and Juvenile Cataracts

Cited by 17 publications

References 2 publications

Posterior polar cataract: minimizing risk of posterior capsule rupture

Posterior polar cataract: minimizing risk of posterior capsule rupture

Juvenile cataract in Hutterites

Juvenile cataract with autosomal recessive inheritance

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