Morphology and Functional Characteristics in Adult Vitelliform Macular Dystrophy

Abstract

Purpose: Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD).Methods: The records of 61 consecutive AVMD patients (inclusion criterion: vitelliform lesion smaller than one disk diameter at least in one eye) were evaluated retrospectively regarding visual acuity, color vision, perimetry, retinal pigment epithelium (RPE) autofluorescence, fluorescein angiography, electro-oculography, full-field and multifocal electroretinography, and molecular genetic evaluation of the VMD2 and RDS/peripherin genes.Results: The mean age of subjects was 54.6 years. Visual loss was variable (median, 0.6; range, 1.25-0.05). Color vision and visual field were normal in about half of the patients but presented defects with high variability in the remaining patients. Autofluorescence findings showed increased fluorescence within the foveal yellow lesion in 76%. In the majority of eyes, the amplitude of the 30 Hz flicker response of the full-field electroretinogram (72%) and the central P1 amplitude of the multifocal electroretinogram (63%) were reduced. Mutational analyses revealed a potentially disease-associated mutation in the RDS/peripherin gene in one patient.Conclusion: AVMD is characterized by late onset, slow progression, good prognosis, and high variability of morphologic and functional abnormalities resulting frequently in misdiagnosis. Autofluorescence findings indicate lipofuscin accumulation in the yellow lesion. Electroretinography revealed a generalized cone system dysfunction with increasing severity toward the fovea.RETINA 24:929 -939, 2004

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa

“…32 In various degenerative retinal disorders, increased FAF correlated with lipofuscin accumulation, whereas reduced or absent FAF indicated blockage (eg, retinal vessels), loss of RPE cells, or absence of RPE phagocytosis. 26,27,[33][34][35][36][37][38][39][40] The patterns of FAF distribution in RP patients observed in this study are similar to those reported previously. Ophthalmoscopically preserved areas of RPE at the posterior pole correspond to detectable FAF.…”

“…The diagnosis was established in each patient by one author (UK) based on patient and family history, ophthalmoscopy, visual field testing, and full-field or multifocal electroretinography according to the standards of the International Society for Clinical Electrophysiology of Vision. [25][26][27][28][29] The range of normal FAF and NIA images was evaluated in one eye of 25 healthy subjects aged 12-70 years without ocular disease. These subjects had normal visual acuity for the eye examined and no abnormalities on ophthalmoscopy.…”

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies

“…Clinically, BVMD 15 and AFVD 16 present with vitelliform lesion at the macula that progress through stages over time but usually the central vision is preserved until late in the disease. In comparison with BVMD, AFVD 16 is a milder disease with a later onset and slower progression. In contrast, ARB presents early in life with central visual acuity loss, irregular RPE alterations, and whitish sub-retinal deposits, 14,17 and is associated with higher incidence of angle closure glaucoma.…”

The Clinical Applications of Multifocal Electroretinography: A Systematic Review

“…259 However, the generalized reduction in mfERG responses was only seen in 14% of eyes in the study by Renner et al and these findings may suggest a large variability in the extent of retinal dysfunction in AVMD. 247 Scholl et al also demonstrated that mfERG amplitude significantly correlated with visual acuity and the stage of disease. 271 Because mfERG abnormalities are often detected in Best disease and AVMD patients with good visual acuity, mfERG may serve as an indicator of the extent of retinal functional impairment in these patients.…”

“…51,224,246,247,250,259,271 Most studies have demonstrated that the majority of patients with Best disease and AVMD have reduced P1 amplitude in the central 5--10 of the retina with sparing of peripheral response amplitudes. 71,224,246,247,250,271 The mfERG implicit times are generally not affected in most patients. Saito et al reported generalized reductions in response amplitudes throughout the macula in 92% of patients with AVMD, suggesting the impairment in retinal function is not only limited to the central macula.…”