An Unusual Presentation of Concurrent Congenital Grouped Pigmentation of the Retina with Albinotic Spots

Watanabe, Megumi; Makino, Shinji; Tampo, Hironobu

doi:10.1159/000375525

Cited by 3 publications

(2 citation statements)

References 6 publications

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“…This series aims to describe multimodal imaging characteristics of CGP-RPE and its variants using four distinctly different cases. Despite appearing funduscopically similar, 13,[20][21][22] No leakage 20 Not established ICGA ‡ Not established AF: autofluorescence, BM: Bruch's membrane, CGP-RPE: congenital grouped pigmentation of the retinal pigment epithelium, EZ: ellipsoid zone, FA: fluorescein angiography, FAF: fundus autofluorescence, ICGA: indocyanine green angiography, IR: infrared, OCT: optical coherence tomography, POFLs: pigmented ocular fundus lesions, RPE: retinal pigment epithelium. † Multimodal imaging characteristics derived from current literature.…”

Section: Resultsmentioning

confidence: 99%

Multimodal imaging characteristics of congenital grouped hyper‐ and hypo‐pigmented fundus lesions

Wang

Yapp

et al. 2020

Clinical and Experimental Optometry

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Background The imaging characteristics of congenital grouped pigmentation of the retinal pigment epithelium (CGP‐RPE) and its non‐pigmented variant – grouped congenital albinotic retinal pigment epithelial spots (GCARPES) are poorly defined in the literature. Our case series reports their multimodal imaging characteristics across a spectrum of presentations. Methods A retrospective review of patient records was conducted on patients seen at the Centre for Eye Health between January and December 2016. The multimodal imaging findings across four cases is described using optical coherence tomography (OCT), infrared imaging, ultra‐widefield imaging, fundus photography and fundus autofluorescence (FAF). Results Case 1 is a 55‐year‐old female with a bilateral presentation of CGP‐RPE showing typical features. Case 2 is a 28‐year‐old male with a classical presentation of GCARPES in the left eye. Case 3 is a 33‐year‐old female with unilateral CGP‐RPE and an atypical solitary congenital hypertrophy of the retinal pigment epithelium (CHRPE) in the same eye. Case 4 is a unilateral presentation in an 11‐year‐old female with unusual characteristics. Ocular imaging characteristics of CGP‐RPE lesions varied between patients: OCT showed visible RPE changes in cases 3 and 4 but not case 1. The pattern of FAF and infrared imaging also varied with most lesions displaying a pattern of hypo‐autofluorescence, but some central lesions in case 3 exhibited hyper‐autofluorescence. All lesions were visible with fundus photography. Conclusion FAF can be helpful in alerting clinicians to the presence of lesions that may be difficult to visualise funduscopically and OCT can be helpful in differentiating between CGP‐RPE and its variants from more sinister ocular conditions. All in all, these findings highlight the variable manifestation of CGP‐RPE and its variants on multimodal imaging; the diagnosis of CGP‐RPE and its variants should remain based on its characteristic funduscopic appearance.

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Section: Resultsmentioning

confidence: 99%

Multimodal imaging characteristics of congenital grouped hyper‐ and hypo‐pigmented fundus lesions

Wang

Yapp

et al. 2020

Clinical and Experimental Optometry

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“…Turell et al 8 described a case of CHRPE with nonpigmented, punctate lesions located within the macula. Watanabe et al 9 described a presentation of concurrent congenital grouped pigmentation of the retina with albinotic spots. Although this is not the first report of RPA and CHRPE occurring simultaneously in the same individual, this is the first report of a variant of the PRPH2 gene associated with RPA and CHRPE.…”

Section: Discussionmentioning

confidence: 99%

A PRPH2 gene variant detected in retinitis punctata albescens with congenital hypertrophy of the retinal pigment epithelium

Qiu

Huang

et al. 2020

European Journal of Ophthalmology

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Retinitis punctata albescens (RPA) is generally diagnosed by the presence of numerous clusters of white punctate lesions in the retina that progress over time and are related to several gene variants. The multifocal variant of congenital hypertrophy of the retinal pigment epithelium (CHRPE) is characterized by multiple, grouped, sharply circumscribed, pigmented spots. The PRPH2 gene encodes a photoreceptor-specific glycoprotein, which is essential for the morphogenesis of rod and cone photoreceptor outer segments. A 39-year-old Chinese female with nyctalopia, complained about blurred vision, presented a unique co-existing feature of RPA and CHRPE. Dilated fundus exam demonstrated numerous porcelain white discrete dots in both eyes and multiple, small, flat clusters of round brown to black pigmented lesions in the left eye. The full field electroretinography (ERG) showed decreased responses after standard dark adaptation and normal b-wave amplitudes after a long (4-h) dark-adapted period. A heterozygous PRPH2 splicing variant was detected in the proband. In addition, the same variant was found in her mother, her son, and her daughter. We describe a PRPH2 variant in a rare case of RPA associated with multifocal CHRPE of the same individual.

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Congenital focal abnormalities of the retina and retinal pigment epithelium

Liu

Moore

2020

Eye

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An Unusual Presentation of Concurrent Congenital Grouped Pigmentation of the Retina with Albinotic Spots

Cited by 3 publications

References 6 publications

Multimodal imaging characteristics of congenital grouped hyper‐ and hypo‐pigmented fundus lesions

Multimodal imaging characteristics of congenital grouped hyper‐ and hypo‐pigmented fundus lesions

A PRPH2 gene variant detected in retinitis punctata albescens with congenital hypertrophy of the retinal pigment epithelium

Congenital focal abnormalities of the retina and retinal pigment epithelium

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