Zusammenfassung
Hintergrund: Die genetische Veranlagung ist für annähernd 50 % der altersabhängigen Katarakte verantwortlich. Die Untersuchung familiär vererbter Katarakte bietet eine gute Möglichkeit, Gene zu identifizieren, die auch bei der altersbedingten Kataraktentwicklung eine Rolle spielen könnten. Patienten und Methoden: Wir beschreiben den Phänotyp einer Schweizer Familie, in der eine juvenile Katarakt mit Mikrokornea und renaler Glukosurie assoziiert ist. Bei 11 von 17 Familienmitgliedern in drei Generationen wurden eine ophthalmologische Untersuchung und eine Urinanalyse durchgeführt. Bei den restlichen 6 wurden Krankenakten oder Fragebogen ausgewertet. Ergebnisse: Juvenile, progressive Katarakte entwickelten sich bei 11 Familienmitgliedern. Die acht von uns untersuchten Kataraktpatienten wiesen bilateral eine Mikrokornea ohne Mikrophthalmie auf. Sechs davon zeigten eine renale Glukosurie. Die Vererbung ist autosomal dominant. Schlussfolgerungen: Es konnte ein neues autosomal dominant vererbtes Syndrom, bestehend aus juveniler Katarakt, Mikrokornea und renaler Glukosurie, definiert werden. Die genetischen Analysen stehen noch aus.
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.
Schlüsselwörter
Syndrom - juvenil - Katarakt - Mikrokornea - renale Glukosurie
Key words
syndrome - juvenile - cataract - microcornea - renal glucosuria
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Dr. med. Kristof Vandekerckhove
Augenklinik, Kantonsspital Luzern
Spitalstraße
6000 Luzern 16, Schweiz
Email: kristofyavita@yahoo.com
