EPOS
European Paediatric Ophthalmological Society
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08 Choroideremia. Clinical and functional aspects in an affected male and three female carriers with a 1388delCCinsG mutation
Rudolph, G.1, Preising, M.N.2, Lorenz, B.2,
Boergen, K.-P.1
Augenklinik der Ludwig-Maximilians-Universität München, Abteilung
für Kinderophthalmologie, Strabismologie und Ophthalmogenetik, Klinikum
der Universität Regensburg
Purpose: To perform clinical and functional correlations in a family segregating a 1388delCCinsG mutation in the Rab escort protein-1 (REP-1).
Methods: A three generation family with two affected males and five carriers was genetically examined. Electroretinography (ERG), multifocal ERG (m-ERG), scanning-laser-ophthalmoscope microperimetry, fluorescein angiography and Arden contrast colour testing was performed in three carriers and one affected male. Molecular genetic analysis was carried out using Polymerase Chain Reaction (PCR), Single Strand Conformation Polymorphism analysis (SSCP), direct sequencing and restriction endonuclease digest in the family.
Results: Carriers demonstrated a clinical phenotype characterized by a variable degree of visual acuity reduction and a variable morphology of the retina, retinal pigment epithelium and choroid. The affected male presented a nearly complete atrophy of the choroid and retinal pigment epithelium. Visual function in the remaining central island of the retinal pigment epithelium of the affected male was reduced, probably leading to blindness. Molecular genetic analysis revealed a 1388delCGinsG mutation predicting a frame shift.
Conclusion: We report on a three generation family with choroideremia caused by a functional null mutation. The phenotype showed variable degrees of affection in the otherwise inconspicious carriers. The data support the notion that it could be helpful to do molecular genetic analysis in carriers to provide further information for genetic counselling.