Morphology and function of the retina in children and young adults with Stargardt dystrophy

• Published in: Zdravniški vestnik (Ljubljana, Slovenia : 1992) Slovenia : 1992), 2012-01, Vol.81
• Main Authors: Vidmar, Martina Jarc, Perovsek, Darko, Glavac, Damjan, Brecelj, Jelka, Hawlina, Marko, Kranjc, Branka Stirn
• Format: Article
• Language: eng ; slv
• ISSN: 1318-0347; 1581-0024

Background: The aim of our study was to evaluate retinal function in children and young adults with Stargardt dystrophy by correlating retinal morphology (autofluorescence, OCT) with functional tests (visual acuity, microperimetry) and electroretinography (full-field ERG, pattern ERG, multifocal ERG). Patients and methods: 6 patients (3 F, 3 M, VA: 0.2 ± 0.1, average onset of problems at 10 yrs of age) were included in the study. Autofluorescence (AF) was recorded and the central 10 º visual fields were tested by microperimetry. The morphology of the retina was recorded by optical coherence tomography (OCT). Full-field ERG, pattern ERG (PERG) and multifocal ERG (mfERG) were recorded according to ISCEV standard in all the patients. Results: AF showed mottled central hypo-hyperautofluorescent areas with or without peripheral hyperautofuorescent flecks in 4 patients and a central hypoautofluorescent region with hyperautofluorescent ring in 2 patients. OCT showed transverse loss of the central photoreceptor layers (average OCT thickness: 38.9 ± 14.8μm, average OCT volume 6.1 ± 0.5 mm3). Microperimetry showed superior shift of fixation to the preferred retinal locus (PRL). PERG was abnormal in 8 eyes. Full-field ERG was normal in all except two patients with abnormal cone and 30 Hz responses. MfERG showed reduced responses in all five rings (ring 1: 22.6 % of mean normal value, ring 2: 27.3 %, ring 3: 38.9 %, ring 4: 57.9 %, ring 5: 64.2 %). Conclusions: In young patients with Stargardt dystrophy central retinal atrophy was shown by OCT and AF. The shift of fixation to the PRL was seen in all the patients. MfERG showed central cone dysfunction in all the patients.