Clinical Features in a Case of Occult Macular Dystrophy With Rp1l1 Mutation

Fu, Yun; Chen, Kuan‐Jen; Lai, Chi-Chun; Wu, Wei‐Chi; Wang, Nan-Kai

doi:10.1097/icb.0000000000000548

Cited by 4 publications

(3 citation statements)

References 5 publications

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“…Occult macular dystrophy (OMD; OMIM:613587), first described by Miyake et al in 1989 [1-5], is the most prevalent form of macular dystrophy in the East Asian population [6][7][8][9][10][11][12][13][14][15][16]. This non-syndromic autosomal dominant (AD) disorder is characterised by progressive loss of visual acuity (VA) in both eyes despite the essentially normal fundus appearance and normal full-field electroretinogram (ffERG) [1][2][3].…”

Section: Introductionmentioning

confidence: 99%

“…The immunohistochemistry assessment in monkeys demonstrated the expression of the RP1L1 protein in rod/cone photoreceptor cells, suggesting its role in morphological and functional maintenance [33]. Consequently, many RP1L1 variants have been reported in families with AD-OMD [6,10,11,14,15,19,34,35]. Since the identifying of biallelic sequence variants illustrating the loss of function in patients with retinitis pigmentosa (RP) in 2013, RP1L1 variants in an autosomal recessive (AR) manner have also been reported [12,19,30,[36][37][38].…”

Section: Introductionmentioning

confidence: 99%

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Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5

Fujinami-Yokokawa,

Yang,

Joo

et al. 2023

Genes

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Occult macular dystrophy (OMD) is the most prevalent form of macular dystrophy in East Asia. Beyond RP1L1, causative genes and mechanisms remain largely uncharacterised. This study aimed to delineate the clinical and genetic characteristics of OMD syndrome (OMDS). Patients clinically diagnosed with OMDS in Japan, South Korea, and China were enrolled. The inclusion criteria were as follows: (1) macular dysfunction and (2) normal fundus appearance. Comprehensive clinical evaluation and genetic assessment were performed to identify the disease-causing variants. Clinical parameters were compared among the genotype groups. Seventy-two patients with OMDS from fifty families were included. The causative genes were RP1L1 in forty-seven patients from thirty families (30/50, 60.0%), CRX in two patients from one family (1/50, 2.0%), GUCY2D in two patients from two families (2/50, 4.0%), and no genes were identified in twenty-one patients from seventeen families (17/50, 34.0%). Different severities were observed in terms of disease onset and the prognosis of visual acuity reduction. This multicentre large cohort study furthers our understanding of the phenotypic and genotypic spectra of patients with macular dystrophy and normal fundus. Evidently, OMDS encompasses multiple Mendelian retinal disorders, each representing unique pathologies that dictate their respective severity and prognostic patterns.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5

Fujinami-Yokokawa,

Yang,

Joo

et al. 2023

Genes

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“…10,13,14 To date, numerous studies describing OMD patients with RP1L1 mutations have been reported, but limited data are available for the Chinese population. 4,15,16 Thus, this study aims to investigate the clinical and genetic characteristics of a small cohort of Chinese OMD patients.…”

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confidence: 99%

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

Wang

Gao

et al. 2020

Invest. Ophthalmol. Vis. Sci.

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et al. Clinical and genetic characteristics of Chinese patients with occult macular dystrophy. Invest Ophthalmol Vis Sci. 2020;61(3):10. https://doi.org/10.1167/iovs.61.3.10 PURPOSE.To investigate the clinical and genetic characteristics of occult macular dystrophy (OMD) based on a Chinese patient cohort. METHODS.Fifteen Chinese OMD patients from nine unrelated families underwent genetic testing, and all of them harbored a pathogenic RP1L1 variant. Comprehensive ophthalmic examinations were performed in nine probands, including spectral-domain optical coherence tomography (SD-OCT), near-infrared reflectance (NIR), fundus autofluorescence (AF), and multifocal electroretinography. RESULTS.The RP1L1 variants p.R45W and p.S1199C were identified in 13 patients and two patients, respectively, and one was a de novo mutation. Among the nine probands, the median ages at onset and examination were 25.0 years (range, 6-51 years) and 27.0 years (range, 14-55 years), respectively. The median decimal visual acuity was 0.20 (range, 0.04-0.5). Foveal photoreceptor thickness and visual acuity showed a significant correlation (r = 0.591; P = 0.01). All eyes presented with an absent interdigitation zone and blurred ellipsoid zone of photoreceptors when examined by SD-OCT. In addition, central round lesions with low NIR reflectance were observed in 66.7% (12/18) of eyes by NIR reflectance imaging, corresponding to the regions with abnormal photoreceptor microstructures observed by SD-OCT. Of the 18 eyes, only four eyes showed ring-like faint hyperfluorescence around the macula by AF. CONCLUSIONS.To the best of our knowledge, this is the largest study in a cohort of Chinese OMD patients with RP1L1 mutations. Our findings revealed that the two recurrent RP1L1 variants are related to OMD in the Chinese population. Furthermore, multimodal imaging combined with genetic testing is valuable for diagnosing and monitoring OMD progression.

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Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients

Albarry

Hashmi

Alreheli

et al. 2019

Ophthalmic Genetics

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Clinical Features in a Case of Occult Macular Dystrophy With Rp1l1 Mutation

Abstract: Spectral domain optical coherence tomography and multifocal electroretinography can serve as diagnostic testings for patients with OMD.

Cited by 4 publications

References 5 publications

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5

Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients

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