Clinical Variations in Assessment of Bull's-eye Maculopathy

Abstract

, we prospectively examined patients with bull's-eye lesions. Age of onset, duration of symptoms, visual acuity, clinical appearance, and autofluorescence images were recorded, the area of atrophy measured, and electrophysiologic investigations performed. Results: Forty-seven patients, including 6 sibling pairs, met the study entry criteria. On the basis of autofluorescence imaging, 3 distinct groups were identified. Group 1 showed a distinct ring of increased autofluorescence surrounding an area of decreased autofluorescence. In group 2, the ring of increased autofluorescence was not present. Group 3 displayed a speckled appearance within the affected area. All patients had evidence of central sparing in an area of centrally increased autofluorescence. There was significant correlation with the age of onset, visual acuity, and duration of disease. Electrophysiologic tests revealed that 28 patients had macular dysfunction only, 14 had cone-rod dystrophy, 3 had rod-cone dystrophy, and only 2 (monozygotic twins) had cone dystrophy. The correlation between electrophysiologic and autofluorescence data was poor. The sibling pairs had concordant autofluorescence appearance, but electrophysiologic grouping differed in 2 pairs. Conclusions: Bull's-eye maculopathy represents a heterogeneous group of disorders. The clinical appearance was not helpful in assessing the degree of retinal dysfunction. The difference in qualitative characteristics of functional loss between siblings implies that these attributes do not necessarily reflect the influence of the primary mutation.

Autofluorescence and Infrared Retinal Imaging in patients and obligate carriers with Neuronal Ceroid Lipofuscinosis

“…An isolated bull's eye maculopathy is not specific to NCL and can be seen in cone-rod, cone, or rod-cone dystrophy. 28 In our subject with a bull's eye maculopathy, FAF intensity was uniformly increased without an annular ring or speckled pattern. This pattern is different from the patterns reported for cone, cone-rod, or rod-cone dystrophy.…”

Discrete arcs of increased fundus autofluorescence in retinal dystrophies and functional correlate on microperimetry

“…2,12,13 The extent and pattern of abnormal FAF may show distinctive distributions in different forms of retinal dystrophies. Recently, in patients with retinitis pigmentosa (RP), [14][15][16][17][18][19] Leber's congenital amaurosis (LCA), 19,20 bull's eye maculopathy, 21 X-linked retinoschisis (XLRS), 19,22 best macular dystrophy, 23 cone dystrophy, and cone-rod dystrophy, 19,[24][25][26][27][28] a parafoveal ring of increased FAF has been noted that may not be visible on biomicroscopy. In RP, constriction of this ring has been noted in some individuals over time.…”

Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence

“…The use of the confocal scanning laser ophthalmoscope (cSLO) for imaging of macular diseases has been well described 19 – 25. In this study, we have characterised in detail the distinct fundus autofluorescence (AF) characteristics of the macular dystrophy associated with the A3243G mtDNA mutation.…”