Variable Expressivity in Fundus Albipunctatus

Margolis, Sheila; Siegel, Irwin M.; Ripps, Harris

doi:10.1016/s0161-6420(87)33274-9

Cited by 18 publications

(6 citation statements)

References 19 publications

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“…2). Similarly, the diminished ERG responses seen in patients with familial fleck retina with night blindness (Miyake & Harada 1982) or variable expressivity in FA (Margolis et al 1987) exhibited nearly normal amplitudes after 20 hours or 45 mins of dark adaptation, although the times required to reach substantial amplitudes for the a‐ and b‐waves differed from those seen in the proband. In addition, recovery from extremely diminished ERG amplitudes after prolonged dark adaptation (20–24 hours) was also seen in patients with Bothnia dystrophy with a mutation (p.R234W) in the RLBP1 gene (Gränse et al 2001).…”

Section: Discussionmentioning

confidence: 93%

“…2). To our knowledge, there have been three reports of patients who presented with similar retinal appearances (Sabel Aish & Dajani 1980; Miyake & Harada 1982; Margolis et al 1987). Unlike the original seven patients (Sabel Aish & Dajani 1980), the three patients (Miyake & Harada 1982) with familial fleck retina with night blindness did have night blindness and extremely delayed dark adaptation.…”

Section: Discussionmentioning

confidence: 99%

“…The authors of these two reports (Sabel Aish & Dajani 1980; Miyake & Harada 1982) concluded that the distribution of the flecks and the fluorescein angiogram findings were similar to those seen in fundus albipunctatus (FA), although the flecks were noted to be a different size and shape. Subsequently, Margolis et al (1987) described a 14‐year‐old female patient who presented with night blindness, good VA and multiple, irregular, yellowish lesions of the fundus, which were presumed to indicate that the disorder was a condition due to variable expressivity in FA. All the pedigrees in these three reports (Sabel Aish & Dajani 1980; Miyake & Harada 1982; Margolis et al 1987) suggested an autosomal recessive transmission.…”

Section: Introductionmentioning

confidence: 99%

“…Subsequently, Margolis et al (1987) described a 14‐year‐old female patient who presented with night blindness, good VA and multiple, irregular, yellowish lesions of the fundus, which were presumed to indicate that the disorder was a condition due to variable expressivity in FA. All the pedigrees in these three reports (Sabel Aish & Dajani 1980; Miyake & Harada 1982; Margolis et al 1987) suggested an autosomal recessive transmission.…”

Section: Introductionmentioning

confidence: 99%

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Compound heterozygous RDH5 mutations in familial fleck retina with night blindness

Hayashi

Goto-Omoto

Takeuchi

et al. 2005

Acta Ophthalmologica Scandinavica

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ABSTRACT.Purpose: To describe the clinical features and genetic analysis of a 3-year-old boy diagnosed with familial fleck retina with night blindness. Methods: The proband and his parents and grandparents were included. History, visual acuity and fundus examinations were evaluated. Bright-flash (rod-plus-cone) electroretinograms (ERGs) were recorded after 30 mins and 180 mins of dark adaptation. Mutation screening of the RDH5 gene encoding 11-cis retinol dehydrogenase was performed. Results: The parents noticed the proband's night blindness when he was 2 years old. Best corrected visual acuity was 1.0 in both eyes. Fundus examinations revealed numerous yellow-white flecks of varying size and shape throughout the midperipheral to far peripheral retina in both eyes. The distribution, size and shape of the flecks were comparable to those seen in familial fleck retina with night blindness, rather than fundus albipunctatus. The ERGs showed extremely diminished responses after 30 mins of dark adaptation, but there were substantial increases in the amplitudes of both a-and b-waves when recorded after 180 mins of dark adaptation. Although a total of 19 RDH5 mutations have been found only in patients with fundus albipunctatus, compound heterozygous mutations, p.V177G and p.L310delinsEV, whose combination has not been previously reported, were found in the proband. The asymptomatic parents and one of the grandparents each carried one of the mutations, consistent with autosomal recessive transmission. Conclusion: Our study indicates that different mutations in the RDH5 gene can cause phenotypic variations of either fundus albipunctatus or familial fleck retina with night blindness.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Compound heterozygous RDH5 mutations in familial fleck retina with night blindness

Hayashi

Goto-Omoto

Takeuchi

et al. 2005

Acta Ophthalmologica Scandinavica

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“…Smith et al 1959. In many studies, the photopic responses have been reported normal, but decreased amplitudes and delay reaching normal values in the scotopic responses have been observed (Krill & Folk 1962;Carret al 1976;Marmor 1977;Margolis et al 1987). In retinitis punctata albescens, the ERG is greatly decreased or extinguished altogether (Vannas & Setala 1958;Tamai et al 1966;Makabe 1970).…”

Section: Discussionmentioning

confidence: 98%

Retinitis punctata albescens

Katajakunnas¹,

Mäntyjärvi²

1989

Acta Ophthalmologica

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A case report of retinitis punctata albescens in a young medical student is presented. At first, the condition was stationary with no visual problems, but after 3 years, the disease showed progression. After 9 years of follow-up, loss of visual acuity, a central scotoma, large errors in colour vision tests, much deteriorated dark adaptation, greatly diminished cone and rod responses in the electroretinogram, and progression in the myopic refraction were observed. In the family study, 71 of the relatives in four generations were examined. No signs of the disease could be found. Most probably, the disease is inherited as an autosomal recessive trait. However, tracing the ancestors back until the year 1829 no consanguinity could be found between the families of the mother and the father of the proband. As for genetic counseling of the relatives, there is a very small probability of acquiring the disease if marriages between relatives are avoided.

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Fundus Reflectometry

Kilbride¹,

Ripps²

1990

Noninvasive Diagnostic Techniques in Ophthalmology

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Variable Expressivity in Fundus Albipunctatus

Cited by 18 publications

References 19 publications

Compound heterozygous RDH5 mutations in familial fleck retina with night blindness

Compound heterozygous RDH5 mutations in familial fleck retina with night blindness

Retinitis punctata albescens

Fundus Reflectometry

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