Juvenile cataract with autosomal recessive inheritance

Abstract

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)

Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases

“…1970. The incidence of auto-soma1 recessive isolated juvenile cataract in Aland seems to be among the highest ever noted (Forsius et al 1991). It appears that Wolman disease will join this list of rare genetic diseases occurring in the h a n d population.…”

Structural Characteristics of the Lens in Presenile Cataract

“…Presenile cataracts can be sporadic or familial. The mode of its inheritance can be dominant—principally in isolated forms or recessive—typical in syndromic forms ( 4 ). Among inherited non-syndromic cataract phenotypes, cataracts affecting the lens nucleus are common while cataracts limited to the lens cortex are rare ( 5 ).…”

A NovelCRYBB2Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

“…Among these mutations, about half are in crystalline genes, mainly including CRYAA , CRYAB , CRYBA4 , CRYBB1 , CRYBB2 , and CRYGC [15]; one-quarter of mutations are in connexin genes, such as GJA3 and GJA [16, 17]; the remaining mutations are other genes which consist essentially of HSF4 [18], MIP [19], and EPHA2 [20]. Although autosomal dominant congenital cataract (ADCC) is the major inherited mode of congenital cataract, there were a few reports about autosomal recessive [21–23] and X-linked inheritance mode [24, 25]. …”