FAF imaging can be reliably used to detect early retinal pigment epithelial alterations in CQ/HCQ retinopathy. Ophthalmoscopy and fluorescein angiography appear to be less sensitive. With the mfERG, more retinal abnormalities were detected compared with FAF imaging.
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
The purpose of this retrospective study was to determine the relevance of both visual-evoked potentials (VEP) and multifocal electroretinography (mfERG) to evaluate unexplained visual loss. Seventy-two consecutive patients (1996-2002) with visual disturbances of unknown origin underwent both VEP and mfERG (ISCEV standard). The mean age was 42.4 years (11.8-74.5) and median visual acuity 0.5 (no light perception - 1.0). Symptoms reported included visual acuity loss (n=69), visual field defects (n=11), disturbances of colour vision, light or dark adaptation (n=10). VEP and mfERG were normal in 43% (n=31). Both VEP and mfERG were pathological in 24% (n=17). In a further 18% (n=13) only the mfERG was pathological and in 15% (n=11) only the VEP was pathological. Macular dysfunction as detected with mfERG was present in 73% of 41 patients with at least one pathological test. Neuroimaging (MRI, CCT) and/or neurological examination was performed in 27/72 patients (38%), to account for unexplained visual loss, prior to the electrophysiological tests; these were normal in all patients. Electrophysiological tests revealed disturbances of the post-retinal visual pathway in only 3/27 patients. In 12/27 patients, mfERG revealed a macular disorder; in a further 12/27 patients VEP and mfERG were normal. The combined evaluation of VEP and mfERG is useful both to establish the area of dysfunction and the normality of the visual system. Electrophysiological testing prior to neuroimaging is recommended for patients where clear clinical signs of cerebral disorders are not evident. This reduces the frequency of unnecessary neuroimaging and associated radiation exposure.
Hereditary retinochoroidal dystrophies are a heterogeneous group of disorders characterised by progressive loss of visual acuity or visual field. They can manifest at every age of life. The basic knowledge of retinal physiology and pathophysiology, diagnostic approach, therapeutic limitations and patient counselling are summarised. Hereditary retinochoroidal dystrophies are usually monogenic disorders. The diagnosis is based on a combined assessment of patient history and the results of morphological, electrophysiological, psychophysical and molecular genetic evaluations. Patients should undergo measurement of refraction and visual acuity testing, perimetry, ophthalmoscopy, full-field and multifocal electroretinography. Additional methods, e.g. fluorescein angiography, electrooculography or laboratory testing are helpful in certain cases. For promising new methods like measurement of retinal pigment epithelium autofluorescence or optic coherence tomography further evaluation of their value for differential diagnosis is required. General molecular genetic testing is still limited due to technical and financial limitations. A detailed differential diagnosis and long-term follow-up are advisable for patient counselling and the development of new therapeutic options. To date, therapy is limited. Major tasks for the ophthalmologists are providing low vision aids and adequate patient counselling.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.