A Unique Presentation of Grouped Congenital Hypertrophy of the Retinal Pigment Epithelium

Turell, Mary E.; Leonardy, Nicholas J.; Singh, Arun D.

doi:10.3109/13816810.2011.562956

Cited by 12 publications

(5 citation statements)

References 12 publications

(12 reference statements)

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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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“…Typical multifocal CHRPE was only observed in the left eye of the proband in this family. 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.…”

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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“…These lesions are asymptomatic and are not associated with systemic disease. 6 Multifocal CHRPE tends to have a sectoral distribution but can be extensive. 2 With fundus autofluorescence imaging, CHRPE appears hypoautofluorescent.…”

Section: Discussionmentioning

confidence: 99%

Diffuse Pigmented Lesions in the Outer Retina: An Unusual Fundus Appearance

Benson

Rubin

Cheema

et al. 2019

Journal of VitreoRetinal Diseases

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Purpose: This report describes and provides a differential diagnosis for a patient with unusual bilateral retinal pigmented lesions. Methods: A 40-year-old woman was found to have multiple flat, gray lesions scattered across her fundi, becoming larger and more confluent toward the periphery. There were small drusenlike deposits in her foveae. The hyperpigmented lesions demonstrated hypoautofluorescence with thickening of the retinal pigment epithelium and disruption of the overlying layers on optical coherence tomography (OCT). Full-field electroretinography revealed generalized reduced a- and b-wave amplitudes. Results: Chest x-ray, breast ultrasound, mammography, and pelvic ultrasound findings were negative for malignant etiologic factors. Panel testing results for hereditary retinal dystrophy were negative. Conclusions: Although the clinical and OCT appearance of the lesions is similar to congenital grouped pigmentation, the symmetric and bilateral nature of ocular findings coupled with electroretinographic changes suggest a possible retinal dystrophy. This case adds to the phenotypic diversity of pigmented fundus lesions.

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A Unique Presentation of Grouped Congenital Hypertrophy of the Retinal Pigment Epithelium

Abstract: The combination of both pigmented and non-pigmented lesions occurring in the same individual with grouped CHRPE is rare. It is important to distinguish grouped CHRPE lesions from the POFLs associated with familial cancer syndromes.

Cited by 12 publications

References 12 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

Diffuse Pigmented Lesions in the Outer Retina: An Unusual Fundus Appearance

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