The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus Flavimaculatus
Abstract
OBJECTIVE: To determine if phenotypic subtypes exist in Stargardt macular dystrophy-fundus flavimaculatus (SMD-FFM). METHODS: A cross-sectional study of 63 patients with autosomal recessive SMD-FFM was undertaken. The age of onset, duration of symptoms, visual acuity, and clinical features on fundus examination, color fundus photographs, and fundus autofluorescence images were recorded. Electrophysiological tests, including pattern, focal, and full-field electroretinogram (ERG), electro-oculogram, and color-contrast sensitivity measurement, were also performed. RESULTS: Based on electrophysiological attributes (ERG), patients with SMD-FFM could be classified into 3 groups. In group 1, there was severe pattern ERG abnormality with normal scotopic and full-field ERGs. In group 2, there was additional loss of photopic function, and in group 3, there was loss of both photopic and scotopic function. Differences in scotopic or photopic function among groups were not explained on the basis of differences in age of onset or duration of disease. CONCLUSIONS: Patients with SMD-FFM can be classified into 3 groups based on the absence or presence of generalized loss of either photopic or photopic and scotopic function. It appears that these 3 groups may represent distinct phenotypic subtypes in SMD-FFM.
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Cites
Standard for clinical electroretinography
Marmor, M. F., Arden, G. B., Nilsson, S.-E., Zrenner, E., & International Standardization Committee (1989) · Documenta Ophthalmologica · doi:10.1007/bf00154486 · Cited by 806
Distribution of fundus autofluorescence with a scanning laser ophthalmoscope.
von Ruckmann, A., Fitzke, F. W., & Bird, A. C. (1995) · British Journal of Ophthalmology · doi:10.1136/bjo.79.5.407 · Cited by 525
Lewis, R. A., Shroyer, N. F., Singh, N., Allikmets, R., Hutchinson, A., Li, Y., Lupski, J. R., Leppert, M., & Dean, M. (1999) · The American Journal of Human Genetics · doi:10.1086/302251 · Cited by 302
Über familiäre, progressive Degeneration in der Maculagegend des Auges
Stargardt, K. (1909) · Albrecht von Græfe's Archiv für Ophthalmologie · doi:10.1007/bf01961301 · Cited by 286
ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy
Molday, L. L., Rabin, A. R., & Molday, R. S. (2000) · Nature Genetics · doi:10.1038/77004 · Cited by 269
Fundus Flavimaculatus: A Clinical Classification
Fishman, G. A. (1976) · Archives of Ophthalmology · doi:10.1001/archopht.1976.03910040721003 · Cited by 230
In Vivo Fundus Autofluorescence in Macular Dystrophies
von Rückmann, A. (1997) · Archives of Ophthalmology · doi:10.1001/archopht.1997.01100150611006 · Cited by 218
Fishman, G. A. (1999) · Archives of Ophthalmology · doi:10.1001/archopht.117.4.504 · Cited by 212
Standard for clinical electroretinography (1994 update)
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Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
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RPE lipofuscin and its role in retinal pathobiology
Sparrow, J. R., & Boulton, M. (2005) · Experimental Eye Research · doi:10.1016/j.exer.2005.01.007 · Cited by 644
Cremers, F. P. M., Lee, W., Collin, R. W. J., & Allikmets, R. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100861 · Cited by 315
Pathogenesis of lesions in late age-related macular disease
Holz, F. G., Pauleikhoff, D., Klein, R., & Bird, A. C. (2004) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2003.11.026 · Cited by 203
Macular dystrophies: Clinical and imaging features, molecular genetics and therapeutic options
Rahman, N., Georgiou, M., Khan, K. N., & Michaelides, M. (2020) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2019-315086 · Cited by 139
Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration
Molday, R. S., Garces, F. A., Scortecci, J. F., & Molday, L. L. (2022) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2021.101036 · Cited by 107
Metadata
- Authors
- Lois, N.
- Venue
- Archives of Ophthalmology
- Publisher
- American Medical Association (AMA)
- Published
- 2001-03-01
- Volume
- 119
- Issue
- 3
- Pages
- 359
- ISSN
- 0003-9950 (ISSN-L)
- OpenAlex
- W2121918635
- Cited by
- 334
- References
- 19
- FWCI
- 2.71
- Type
- journal article
- Language
- en
- Open access
- closed
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