[Juvenile cataract associated with microcornea and glucosuria: a new syndrome].

Abstract:

BACKGROUND:Predisposition is responsible for approximately 50% of age-related cataracts. Investigation of inherited forms of cataract provides the opportunity to identify the genes that may play a role in age-related cataract as well. PATIENTS AND METHODS:We describe the phenotype of a Swiss family with juvenile cataract, associated with microcornea and renal glucosuria. 11 of 17 family members in three generations underwent ophthalmic assessment and urine analysis. Medical records or questionnaires were evaluated in the remaining six cases. RESULTS:Eleven family members had progressive juvenile cataract. Eight affected members available for clinical examination had bilateral microcornea, not associated with microphthalmos. Furthermore, renal glucosuria was demonstrated in six of these persons. The mode of inheritance is autosomal-dominant. CONCLUSIONS:We have defined a new syndrome, consisting of the association of juvenile cataract, microcornea and renal glucosuria. The pattern of inheritance is autosomal-dominant. Genotyping is ongoing.

journal_name

Klin Monbl Augenheilkd

authors

Vandekerckhove K,Lange AP,Herzog D,Schipper I

doi

10.1055/s-2007-962943

subject

Has Abstract

pub_date

2007-04-01 00:00:00

pages

344-6

issue

4

eissn

0023-2165

issn

1439-3999

journal_volume

224

pub_type

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