Stargardt's disease and retinitis pigmentosa: different phenotypic presentations in the same family

Özdek, Şengül; Onaran, Zafer; Güreli̇k, Gökhan; Bi̇lgi̇han, Kamil; Acar, Ceren; Hasanreısoğlu, Berati

doi:10.1038/sj.eye.6701730

Cited by 5 publications

(2 citation statements)

References 8 publications

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“…Transmission of disease can vary from person to person, even within the same family. [45] Genetic research has identified nearly about 500 genes that contribute to inherited eye diseases. The inheritance pattern of Stargardts is mostly autosomal recessive although a small number may be autosomal dominant.…”

Section: Discussionmentioning

confidence: 99%

Macular dystrophy in a young male with corneal dystrophy among sisters

Zachariah¹,

Idiculla²,

Keshav³

et al. 2011

Oman J Ophthalmol

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Section: Discussionmentioning

confidence: 99%

Macular dystrophy in a young male with corneal dystrophy among sisters

Zachariah¹,

Idiculla²,

Keshav³

et al. 2011

Oman J Ophthalmol

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“…These include Stargardt disease, fundus flavimaculatus, RP, and cone–rod dystrophy. The different phenotypes reflect the different tissues in which the ABCA4 gene is expressed, including the photoreceptors and the retinal pigment epithelium [ 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

Sather

Ihinger

Simmons

et al. 2023

IJMS

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This retrospective study identifies patients with RP at the Inherited Retinal Disease Clinic at the University of Minnesota (UMN)/M Health System who had genetic testing via next generation sequencing. A database was curated to record history and examination, genetic findings, and ocular imaging. Causative pathogenic and likely pathogenic variants were recorded. Disease status was further characterized by ocular coherence tomography (OCT) and fundus autofluorescence (AF). Our study cohort included a total of 199 patients evaluated between 1 May 2015–5 August 2022. The cohort included 151 patients with non-syndromic RP and 48 with syndromic RP. Presenting symptoms included nyctalopia (85.4%) photosensitivity/hemeralopia (60.5%), and decreased color vision (55.8%). On average, 38.9% had visual acuity of worse than 20/80. Ellipsoid zone band width on OCT scan of less than 1500 μm was noted in 73.6%. Ninety-nine percent had fundus autofluorescence (AF) findings of a hypo- or hyper-fluorescent ring within the macula and/or peripheral hypo-AF. Of the 127 subjects who underwent genetic testing, a diagnostic pathogenic and/or likely pathogenic variant was identified in 67 (52.8%) patients—33.3% of syndromic RP and 66.6% of non-syndromic RP patients had a diagnostic gene variant identified. It was found that 23.6% of the cohort had negative genetic testing results or only variants of uncertain significance identified, which were deemed as non-diagnostic. We concluded that patients with RP often present with advanced disease. In our population, next generation sequencing panels identified a genotype consistent with the exam in just over half the patients. Additional work will be needed to identify the underlying genetic etiology for the remainder.

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Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

et al. 2006

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A large multiplex family presumably affected with autosomal recessive cone-rod dystrophy (CRD) was ascertained from Israel. In this family of Christian Arab ancestry with six consanguineous loops, linkage analysis failed to identify homozygosity in all six nuclear families at any of the three arCORD loci hitherto reported. However, homozygosity was found at the CORD3 locus for two nuclear families and the segregation of three distinct haplotypes at this locus in the whole pedigree suggested the alteration of the ABCA4 gene. This hypothesis was confirmed by the identification of three distinct mutations. Subsequently, with regard to the wide spectrum of autosomal recessive retinal dystrophies related to ABCA4 mutations, the natural history of the disease was revisited in all patients. Although the diagnosis of CRD was confirmed in 8/9 patients, the last one, aged of 34, displayed typical signs of Stargardt disease without extension to the peripheral retina. The results of this study emphasize the pitfalls of homozygosity mapping in highly inbred families when the heterozygote carrier frequency is particularly high in the general population.

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Stargardt's disease and retinitis pigmentosa: different phenotypic presentations in the same family

Abstract: Figure 4 Fundus photograph of the 32-year-old brother.

Cited by 5 publications

References 8 publications

Macular dystrophy in a young male with corneal dystrophy among sisters

Macular dystrophy in a young male with corneal dystrophy among sisters

Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

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