Clinical Characteristics of Occult Macular Dystrophy in Family With Mutation of Rp1l1 Gene

Tsunoda, Kazushige; Usui, Tomoaki; Hatase, Tetsuhisa; Yamai, Satoshi; Fujinami, Kaoru; Hanazono, Gen; Shinoda, Kei; Ohde, Hisao; Akahori, Masakazu; Iwata, Takeshi; Miyake, Yoichi

doi:10.1097/iae.0b013e318232c32e

Cited by 48 publications

(90 citation statements)

References 23 publications

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“…The SD-OCT findings of our cases were similar to those of occult macular dystrophy with the RP1L1 mutation, Miyake's disease, in that both EZ blurring and IZ loss were observed in the affected region without RPE atrophy. 34,64,65 Because both POC1B and RP1L1 are located at the retinal photoreceptor sensory cilia, there is a possibility that the loss of IZ and blurred EZ with preserved RPE are diagnostic markers for retinal ciliopathies. There are, however, other ciliopathies affecting the retina, such as RPGR-, 66-68 RPGRIP1-, [69][70][71] RP1- [72][73][74] and CEP290-associated retinopathies, 75,76 which commonly lead to an apparent RPE degeneration.…”

Section: Discussionmentioning

confidence: 99%

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Kameya

Fujinami

Ueno

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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Citation: Kameya S, Fujinami K, Ueno S, et al. Phenotypical characteristics of POC1B-associated retinopathy in Japanese cohort: cone dystrophy with normal funduscopic appearance. Invest Ophthalmol Vis Sci. 2019;60:3432-3446. https://doi.org/ 10.1167/iovs.19-26650 PURPOSE. Cone/cone-rod dystrophy is a large group of retinal disorders with both phonotypic and genetic heterogeneity. The purpose of this study was to characterize the phenotype of eight patients from seven families harboring POC1B mutations in a cohort of the Japan Eye Genetics Consortium (JEGC). METHODS.Whole-exome sequencing with targeted analyses identified homozygous or compound heterozygous mutations of the POC1B gene in 7 of 548 families in the JEGC database. Ophthalmologic examinations including the best-corrected visual acuity, perimetry, fundus photography, fundus autofluorescence imaging, optical coherence tomography, and full-field and multifocal electroretinography (ERGs) were performed.RESULTS. There were four men and four women whose median age at the onset of symptoms was 15.6 years (range, 6-23 years) and that at the time of examination was 40.3 years (range, 22-67 years). The best-corrected visual acuity ranged from À0.08 to 1.52 logMAR units. The funduscopic appearance was normal in all the cases except in one case with faint mottling in the fovea. Optical coherence tomography revealed an absence of the interdigitation zone and blurred ellipsoid zone in the posterior pole, but the foveal structures were preserved in three cases. The full-field photopic ERGs were reduced or extinguished with normal scotopic responses. The central responses of the multifocal ERGs were preserved in two cases. The diagnosis was either generalized cone dystrophy in five cases or cone dystrophy with foveal sparing in three cases.CONCLUSIONS. Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort.Whole-exome sequencing and targeted sequence analyses of the 301 retinal disease-associated genes (including genes of Retnet; https://sph.uth.edu/retnet/, in the public domain) were done according to the published protocol of the NISO. 35 Paired-end sequence library construction and exome capturing Downloaded from iovs.arvojournals.org on 07/08/2020 FIGURE 8. Horizontal and vertical OCT images of the left eye of patient 1 recorded at the age 35 years (A) and 39 years (B).Longitudinal reflectivity profiles at the fovea are shown below the OCT images. EZ and IZ are preserved in the fovea at the age 35 years but they are blurred at the age of 39 years. The reflectivity profiles show small peaks of IZ at the age 35 years but not at 39 years. The reflectance intensity of the IZ relative to the RPE was 0.82 at the age 35 years and 0.63 at the age 39 years. The reflectance intensity of the EZ relative to the RPE was 0.86 at the age 35 years and 0.77 at the age 39 years. The reflectivity was averaged in width as indicated by the yellow lines. ILM, internal limiting membra...

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Section: Discussionmentioning

confidence: 99%

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Kameya

Fujinami

Ueno

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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“…OMD is a kind of cone dystrophy with a normal fundus appearance 8–11. Recently, a point mutation was found in the RP1L1 gene in patients with autosomal-dominant OMD 10.…”

Section: Discussionmentioning

confidence: 99%

“…Cases of atypical CRD, such as CRD with normal fundi,4–7 occult macular dystrophy (OMD; Miyake disease),8–11 peripheral cone dystrophy,12–15 fundus albipunctatus associated with cone dystrophy,16,17 and cone dystrophy with supernormal rod ERGs18,19 have also been reported.…”

Section: Introductionmentioning

confidence: 99%

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

Sakuramoto¹,

Kuniyoshi²,

Tsunoda³

et al. 2013

OPTH

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BackgroundWe report our findings in two siblings with late-onset cone–rod dystrophy (CRD) with no visible macular degeneration.Cases and methodsCase 1 was an 82-year-old man who first noticed a decrease in vision and color blindness in his early seventies. His mother and younger sister also had visual disturbances. His decimal visual acuity was 0.3 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed normal fundi, and fluorescein angiography was also normal in both eyes. The photopic single flash and flicker eletroretinograms (ERGs) were severely attenuated and the scotopic ERGs were slightly reduced in both eyes. Case 2 was the 80-year-old younger sister of Case 1. She first noticed a decline in vision and photophobia in both eyes in her early seventies. Her decimal visual acuity was 0.4 in the right eye and 0.2 in the left eye. Ophthalmoscopy showed mottling of the retinal pigment epithelium in the midperiphery with no visible macular degeneration. The photopic single flash and flicker ERGs were severely attenuated, and the scotopic ERGs were slightly reduced in both eyes.ConclusionThese siblings are the oldest reported cases of CRD with no visible macular degeneration. Thus, CRD should be considered in patients with reduced visual acuity, color blindness, and photophobia even if they are older than 70 years.

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“…[4][5][6][7][8][9][10] The expression of RP1L1 is limited to the retina where it encodes a 2400 amino acid photoreceptor-specific protein. It is similar in sequence to the retinitis pigmentosa gene (RP1).…”

Section: Rare Diseasementioning

confidence: 99%

“…The importance of serial clinical examinations of his progeny over time was discussed with the affected individual, as asymptomatic family members may manifest OCT findings prior to any subjective change in visual function. [13][14][15] Despite our increasing technological advances in diagnosing OMD, no treatment is available. These patients should be promptly referred for genetic counselling, low vision services and a low threshold for testing asymptomatic family members must be maintained.…”

Section: Rare Diseasementioning

confidence: 99%

ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1

et al. 2017

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A 57-year-old man with a past medical history of diabetes presented for consultation with a several year history of slowly progressive vision loss in both eyes, which continued to deteriorate over 7 years of follow-up. Multimodal imaging was performed and was significant for the following: on spectral domain optical coherence tomography, a gap lesion was present in the ellipsoid layer, beneath the umbo, as well as subtle macular changes on auto fluorescence imaging. Multifocal electroretinography was performed and was abnormal, and a clinical diagnosis of occult macular dystrophy was made. The patient was subsequently evaluated with genetic testing that revealed a novel p.P73S:c 217C>T nonsense mutation within the retinitis pigmentosa 1-like-1 (RP1L1) gene. The clinical significance of the identified variation will require further investigation.

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Clinical Characteristics of Occult Macular Dystrophy in Family With Mutation of Rp1l1 Gene

Abstract: The abnormalities in the multifocal electroretinograms and optical coherence tomography observed in the OMD patients of different durations strongly support the contribution of RP1L1 mutation to the presence of this disease.

Cited by 48 publications

References 23 publications

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1

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Clinical Characteristics of Occult Macular Dystrophy in Family With Mutation of Rp1l1 Gene

Abstract: The abnormalities in the multifocal electroretinograms and optical coherence tomography observed in the OMD patients of different durations strongly support the contribution of RP1L1 mutation to the presence of this disease.

Cited by 48 publications

References 23 publications

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Phenotypical Characteristics ofPOC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Two siblings with late-onset cone&ndash;rod dystrophy and no visible macular degeneration

ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1

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Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration