Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family

We describe a Sicilian family in which optic disc drusen, angioid streaks, and mottled fundus--without dermatological signs of pseudoxanthoma elasticum (PXE)--are present in various combinations and segregate as an autosomal dominant trait. Since these ocular manifestations can be part of the clinic...

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Bibliographic Details
Published in:Graefe's archive for clinical and experimental ophthalmology 2002-09, Vol.240 (9), p.771-776
Main Authors: LI VOLTI, Salvatore, AVITABILE, Teresio, LI VOLTI, Giovanni, MELONI, Ilaria, FORABOSCO, Paola, MARANO, Filippo, BIANCA, Sebastiano, RENIERI, Alessandra
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Angioid Streaks - genetics
Angioid Streaks - pathology
Biological and medical sciences
Child
Eye Diseases, Hereditary - genetics
Eye Diseases, Hereditary - pathology
Female
Fundus Oculi
Genetic Linkage
Genetic Markers
Humans
Lod Score
Male
Medical sciences
Middle Aged
Multidrug Resistance-Associated Proteins - genetics
Ophthalmology
Optic Disk Drusen - genetics
Optic Disk Drusen - pathology
Pedigree
Polymorphism, Single Nucleotide
Pseudoxanthoma Elasticum - genetics
Retinopathies
Sicily
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Summary:We describe a Sicilian family in which optic disc drusen, angioid streaks, and mottled fundus--without dermatological signs of pseudoxanthoma elasticum (PXE)--are present in various combinations and segregate as an autosomal dominant trait. Since these ocular manifestations can be part of the clinical signs of PXE, we examined the possible involvement of a mutation in the ABCC6 gene, which is known to be responsible for PXE. Linkage analysis was performed with both intragenic and flanking markers. We used marker D16B9722 and a single-nucleotide polymorphism located in exon 15 of the ABCC6 gene. LOD score values were calculated on the assumption of a gene frequency of 0.0001 and both complete penetrance and reduced penetrance (90%), with theta values between 0.0 and 0.4. LOD score values excluded the involvement of the ABCC6 gene. The dominant transmission of optic disc drusen, mottled fundus, and angioid streaks in this family is not due to alterations in the ABCC6 gene.
ISSN:0721-832X
1435-702X
DOI:10.1007/s00417-002-0534-3