[Gene mutations and clinical features of adult vitelliform macular dystrophy in 5 patients].

ABSTRACT

OBJECTIVE: To describe the clinical features as well as mutations in 2 relative genes in 5 cases with macular dystrophies presenting with vitelliform lesions in adulthood. METHODS: Case control study. A total of 5 patients visited Eye and ENT Hospital of Fudan University between January and December 2012 and diagnosed with adult onset macular dystrophy were reviewed. Patient evaluation included complete ophthalmic examinations, such as optical coherence tomography, fundus photography, electrooculogram testing and fundus autofluorescence. The Best1 and peripherin/RDS genes were screened for variation by direct DNA sequencing of coding regions and intron/exon boundaries. At the same time, 50 controls were screened in the same way to get comparisons. RESULTS: The age at the time of diagnosis ranged from 28 to 59 years with the average of 45 years. 2 patients were affected bilaterally, while the other 3 were unilateral Attack. Moreover, vitelliform lesion and macular atrophy was found in 2 eyes separately in 1 patient. Direct sequencing of PCR products spanning all exons revealed a noval missense mutation in 1 patient1009 G>A, causing a Ala 337 Thr change in Peripherin/RDS gene exon 3, as well as a slightly reduced EOG Arden index bilaterally. There was no such change in controls. CONCLUSIONS: The AVMD related with mutations in peripherin/RDS gene has its own clinical features. The mutation near the C-terminal domain of the polypeptide may play a crucial role in the development of AVMD. There is some relevance between clinical feature and genetype in AVMD.