Bull's eye maculopathy with early cone degeneration.

Grey, R. H. B.; Blach, R K; Barnard, W M

doi:10.1136/bjo.61.11.702

Cited by 16 publications

(2 citation statements)

References 19 publications

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“…The striking feature of a negative waveform in the photopic ERG found in 2 cases suggests that the dysfunction here was not localized in the cone photoreceptors but rather in the postphototransduction system as has previously been noted in some patients with BEM. 24 A negative scotopic ERG waveform is a recognized finding in certain cases. 6,25 There is no good explanation for this phenomenon, although synaptic changes have been described in photoreceptor dysfunction.…”

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confidence: 99%

Clinical Variations in Assessment of Bull's-eye Maculopathy

Kurz–Levin

Halfyard²,

Bunce

et al. 2002

Arch Ophthalmol

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, 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.

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Section: Commentmentioning

confidence: 99%

Clinical Variations in Assessment of Bull's-eye Maculopathy

Kurz–Levin

Halfyard²,

Bunce

et al. 2002

Arch Ophthalmol

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“…34 Recently selective cone dystrophies affecting only one or two cone types have been separated from generalised cone dystrophies.5'7 In inherited retinal degenerations, however, the location of the primary retinal defect has always been attributed to the photoreceptor-retinal pigment epithelium complex. 2 Occasionally electroretinographic findings were described, that indicated a dysfunction of inner retinal layers in cone dystrophies, 8'yet, these findings were ignored. In those cases the bwave was severely reduced compared with a normal or moderately reduced a-wave, resulting in a 'negative' photopic electroretinogram."…”

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confidence: 99%

Cone dystrophies with negative photopic electroretinogram.

Kellner

Foerster

1993

British Journal of Ophthalmology

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A scotopic electroretinogram with an a-wave amplitude larger than the b-wave amplitude traditionally is termed 'negative'. Six male patients with negative photopic electroretinograms were examined; three of them suffered from progressive cone dystrophy, in which negative electroretinograms are unusual. Another patient without symptoms was the brother of a patient with cone dystrophy. These patients are compared with others who characteristically have negative electroretinograms -one patient with incomplete congenital stationary night blindness and another with X linked congenital retinoschisis. Differential diagnosis between these unusual cases of cone dystrophies and X linked retinoschisis or congenital stationary night blindness was possible with funduscopy, adaptometry, and evaluation of progression, but not with the electroretinogram. Inner retinal defects may occur in cone dystrophies as indicated by the negative electroretinogram. The waveform variations between our patients may be due to different inner retinal defects. The findings in two brothers indicate that cone dystrophy and inner retinal defects may be inherited separately. (BrJ Ophthalmol 1993; 77: 404-409) Cone dystrophies are a group of diseases involving the function of retinal cones in various ways. I2 Several different primary defects within the retina seem to exist: degenerations can be separated according to the retinal area and cone types affected. Different involvement of central and peripheral cones has been described.34 Recently selective cone dystrophies affecting only one or two cone types have been separated from generalised cone dystrophies.5'7 In inherited retinal degenerations, however, the location of the primary retinal defect has always been attributed to the photoreceptor-retinal pigment epithelium complex.2 Occasionally electroretinographic findings were described, that indicated a dysfunction of inner retinal layers in cone dystrophies,8'-yet, these findings were ignored. In those cases the bwave was severely reduced compared with a normal or moderately reduced a-wave, resulting in a 'negative' photopic electroretinogram." Similar electroretinograms were seen in incomplete congenital stationary night blindness,'2-" and X linked congenital retinoschisis.'718We analysed retrospectively the records of three patients who suffered from cone dystrophies, had a negative photopic electroretinogram, and in whom X linked retinoschisis and congenital stationary night blindness could be excluded. The patients are compared with patients with incomplete congenital stationary night blindness and X linked retinoschisis. Electrophysiological methodsThe electro-oculographic technique was as described by Rhode et al." The normal range of the light peak/baseline ratio was 187 (SD 36)% (±2 SD); therefore the lower limit of the normal range was 151%.The electroretinographic recording method has been described in detail.'820 The recording protocol includes all stimuli specified by the Figure 1

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New Mutation, P575L, in the GUCY2D Gene in a Family With Autosomal Dominant Progressive Cone Degeneration

Small¹

2008

Arch Ophthalmol

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To clinically characterize the retinal abnormalities and identify the mutation causing an autosomal dominant cone degeneration in an African American family. Methods: Clinical characterization of family members using fundus photography, fluorescein angiography, and electrophysiological testing. Standard molecular genetic methods were used, including segregation analysis and DNA sequencing of candidate genes. Genetic mutation screening was performed in 20 individuals: 10 clinically unaffected and 10 affected. Results: The affected family members had findings consistent with a primary cone degeneration. A novel mutation, P575L, was found in exon 8 of the GUCY2D gene in 12 members of this family. Conclusions: Inadditiontofindingapreviouslyundescribed mutation in GUCY2D, 2 of the family members who were thought to be unaffected through routine clinical examinations also had this mutation. These findings suggest that autosomal dominant cone degeneration in this family demonstrated age-dependent penetrance, which appears incomplete. This is the first African American family reported with a mutation in GUCY2D. Because the disease in this family and the one we previously described is primarily a cone degeneration, this disease should be more properly classified as cone degeneration and be called cone degeneration 2. Clinical Relevance: This study helps to expand the phenotype of the disease and help clinicians identify patients with cone degenerations.

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Bull's eye maculopathy with early cone degeneration.

Cited by 16 publications

References 19 publications

Clinical Variations in Assessment of Bull's-eye Maculopathy

Clinical Variations in Assessment of Bull's-eye Maculopathy

Cone dystrophies with negative photopic electroretinogram.

New Mutation, P575L, in the GUCY2D Gene in a Family With Autosomal Dominant Progressive Cone Degeneration

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