Congenital simple hamartoma of the retinal pigment epithelium with depigmentation at the margin in an Indian female

oc000112 10.3205/oc000112 urn:nbn:de:0183-oc0001127 Case Report Congenital simple hamartoma of the retinal pigment epithelium with depigmentation at the margin in an Indian female Tripathy Tripathy Koushik K MD

Department of Ophthalmology, ASG Eye Hospital, 403/1 Alcove Gloria, Dakshindari Road, VIP Road, Sreebhumi, Near Lake Town, Kolkata, 700048, West Bengal, India, Phone: +91 33 25212200Department of Ophthalmology, ASG Eye Hospital, Kolkata, India

koushiktripathy@gmail.com author Bandyopadhyay Bandyopadhyay Gopal G MD

Department of Ophthalmology, ASG Eye Hospital, Kolkata, India

author Basu Basu Koushik K MD

Department of Ophthalmology, ASG Eye Hospital, Kolkata, India

author Vatwani Vatwani Kishore Kumar KK MS

Department of Ophthalmology, ASG Eye Hospital, Kolkata, India

author Shekhar Shekhar Himanshu H

Department of Ophthalmology, ASG Eye Hospital, Kolkata, India

author German Medical Science GMS Publishing House

Düsseldorf

610 congenital hypertrophy of the retinal pigment epithelium CHRPE Congenital simple hamartoma of the retinal pigment epithelium CSHRPE combined hamartoma of retinal and retinal pigment epithelium CHRRPE 20190618 engl This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. Dieser Artikel ist ein Open-Access-Artikel und steht unter den Lizenzbedingungen der Creative Commons Attribution 4.0 License (Namensnennung). 2193-1496 9 GMS Ophthalmology Cases GMS Ophthalmol Cases 23 Objective: To report a case of congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) with depigmentation at the margin.Method: Case report.Result: A 40-year-old Indian female was noted to have a small pigmented lesion with a depigmented margin toward the fovea in the right eye. The best-corrected vision was 6/6 in either eye. The optical coherence tomography revealed a highly reflective lesion at the retinal surface causing a shadow effect, suggestive of CSHRPE.Conclusion: Imaging features of a patient with CSHRPE with a crescent-like depigmented area at the margin are presented. IntroductionCongenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is a rare benign pigmented lesion of the ocular fundus. A PubMed search on 21st October 2018 with the search phrases “simple hamartoma of retinal pigment epithelium” and “congenital simple hamartoma of retinal pigment epithelium” resulted in 22 p</PlainText></TextGroup>apers discussing 31 cases and 3 review articles. However, these search results did not include the earliest description of the entity in 2 cases by Laqua <TextLink reference="1"></TextLink> and <TextGroup><PlainText>10 c</PlainText></TextGroup>ases by Gass <TextLink reference="2"></TextLink>. Gass <TextLink reference="2"></TextLink> divided these lesions into <TextGroup><PlainText>3 t</PlainText></TextGroup>ypes – superficial, intraretinal with preretinal extension, and preretinal extension with superficial vascularization. The authors present a case of CSHRPE with depigmentation at the margin.</Pgraph></TextBlock> <TextBlock linked="yes" name="Case description"> <MainHeadline>Case description</MainHeadline><Pgraph>A 40-year-old Indian female presented to us for a routine check-up. The best corrected visual acuity was 6/6 and N6 in both eyes (+0.50/–2.00 x 90º in both eyes). The anterior segment was unremarkable in both eyes. Intraocular pressure was 12 mmHg in both eyes. The left fundus was normal. The right fundus showed a small pigmented flat lesion very near and superotemporal to the foveola. It had a crescent-like depigmented margin towards the foveola (Figure 1a <ImgLink imgNo="1" imgType="figure"/>). Fundus fluorescein angiogram (FFA) showed blocked fluorescence at the pigmented lesion and hyperfluorescence at the area of depigmentation (Figure 1b <ImgLink imgNo="1" imgType="figure"/>). </Pgraph><Pgraph>Optical coherence tomography (OCT) revealed a minimally elevated highly reflective lesion at the retinal surface causing a shadow effect, suggestive of CSHRPE (Figur<TextGroup><PlainText>e 2a </PlainText></TextGroup><ImgLink imgNo="2" imgType="figure"/>). The inner retinal hyperreflectivity was also present in the OCT scans through the depigmented area, suggesting it to be a part of the CSHRPE (Figure 2b <ImgLink imgNo="2" imgType="figure"/>).</Pgraph></TextBlock> <TextBlock linked="yes" name="Discussion"> <MainHeadline>Discussion</MainHeadline><Pgraph>Gass <TextLink reference="2"></TextLink> defined the retinal pigment epithelial hamartoma as “focal, nodular, jet black lesions that usually appear to involve the full thickness of the retina and to spill onto the inner retinal surface in an umbrella fashion”. However, the lesions may be flat <TextLink reference="2"></TextLink>, <TextLink reference="3"></TextLink>, <TextLink reference="4"></TextLink> or also minimally elevated <TextLink reference="5"></TextLink>, <TextLink reference="6"></TextLink>. Other names of this lesion are congenital RPE adenoma, congenital or primary RPE hyperplasia <TextLink reference="7"></TextLink>, and RPE hamartoma <TextLink reference="2"></TextLink>. The lesion is composed of hyperplastic RPE with variable vascular component <TextLink reference="2"></TextLink>. The typical location is near the fovea, nasal peripapillary CSHRPE has also been reported <TextLink reference="2"></TextLink>. These lesions typically do not cause visual decline or changes in the surrounding retina, retinal pigment epithelium (RPE) or choroid, or hemorrhage or exudates <TextLink reference="2"></TextLink>. On long-term follow-up, decrease in vision may be seen. Other features include dragging of surrounding vessels for especially foveal lesion, vitreous adhesion/vitreomacular traction (VMT, which might gain some vision after vitrectomy and release of the VMT), mild retinal traction, minimally dilated retinal feeding artery and draining vein, retinal exudation, and pigmented vitreous cells <TextLink reference="7"></TextLink>, retinal hemorrhage, macular hole, congenital retinal arterial macrovessel, and intraretinal hyporeflective spaces (cystoid macular edema which partially responded to intravitreal bevacizumab). Reported associations include amblyopia, esotropia, visual decline, anomalous optic nerve head <TextLink reference="2"></TextLink>, and Coats’ disease like response.</Pgraph><Pgraph>The fluorescein angiogram shows hypofluorescence of the black lesion and hyperfluorescence at the depigmentation within the lesion <TextLink reference="7"></TextLink> or at the margin with or without a hyperfluorescent halo <TextLink reference="7"></TextLink>. Depigmentation within the lesion may correspond to the intrinsic vasculature of the hamartoma <TextLink reference="8"></TextLink>.</Pgraph><Pgraph>Marginal depigmentation has been reported in <TextGroup><PlainText>case 2</PlainText></TextGroup> of the series by Baskaran and colleagues <TextLink reference="3"></TextLink> and case 1 of the series by Kálmán and Tóth (this case had a history of trauma) <TextLink reference="4"></TextLink>. In these cases, the depigmentation was at the margin toward the foveola. In our case, the depigmented area was on the inner surface of the retina rather than the RPE (Figure 2b <ImgLink imgNo="2" imgType="figure"/>) confirming it to be a part of the CSHRPE. A similar appearance may be due to focal RPE hyperplasia which may occur after various insults including trauma, intraocular inflammation, hemorrhage, and retinal detachment <TextLink reference="9"></TextLink>. In particular, case 2 of the series reported by Shields and coworkers is similar to our case <TextLink reference="9"></TextLink>. This male had a history of macular laser thrice for central serous chorioretinopathy. At 59 years of age, he developed “a focal area of flat pigmentation measuring approximately 200 mm in diameter [...] first noticed immediately temporal to the foveola, where the laser had been applied previously”. The lesion continued to grow gradually in diameter and thickness, and after 8 years “it was 2 mm in diameter and 2 mm in thickness and had circinate exudation around the elevated portion of the lesion with a rim of shallow subretinal fluid” <TextLink reference="9"></TextLink>. The lesion continued to grow and eventually eroded through the retina and involved the posterior vitreous face <TextLink reference="9"></TextLink>. In contrast to this patient, our patient did not have a history of ocular trauma or laser. Also, the fovea did not show any other abnormality than the pigmented lesion. Another differential of the lesion in our case may be congenital hypertrophy of the retinal pigment epithelium (CHRPE) which may have a depigmented halo around it. CHRPE involves the RPE in the OCT scan, in contrast to our case which was in the superficial retina. A combined hamartoma of the retina and the RPE <TextLink reference="10"></TextLink> typically does not have a well-defined margin and is associated with epiretinal membrane/gliosis, vascular tortuosity/dragging, and deep pigmentation. In our case, the lesion was well-defined and there were no other associated changes. Macular telangiectasia type 2 was excluded in our case as the typical perifoveal graying, perifoveal leakage in FFA, and intraretinal tissue defects in OCT were absent. Other differential diagnoses were ruled out in our case which include a foreign body, adenoma or adenocarcinoma of the RPE, an intraocular foreign body and retinal invasion from an underlying choroidal tumor (nevus or melanoma) <TextLink reference="7"></TextLink>. Ultrasound of the eye could not detect the lesion in our case. Autofluorescence and OCT angiogram were not done, and long-term follow-up or histological correlation was not available in our patient, which are limitations of this case report.</Pgraph><Pgraph>In conclusion, we describe a case of CSHRPE in an Indian female, who also had a depigmented crescentic area at the margin of the lesion.</Pgraph></TextBlock> <TextBlock linked="yes" name="Notes"> <MainHeadline>Notes</MainHeadline><SubHeadline>Competing interests</SubHeadline><Pgraph>The authors declare that they have no competing interests.</Pgraph></TextBlock> <References linked="yes"> <Reference refNo="1"> <RefAuthor>Laqua H</RefAuthor> <RefTitle>Tumors and tumor-like lesions of the retinal pigment epithelium</RefTitle> <RefYear>1981</RefYear> <RefJournal>Ophthalmologica</RefJournal> <RefPage>34-8</RefPage> <RefTotal>Laqua H. Tumors and tumor-like lesions of the retinal pigment epithelium. Ophthalmologica. 1981;183(1):34-8. 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DOI: 10.1016/j.ajo.2017.06.020</RefTotal> <RefLink>http://dx.doi.org/10.1016/j.ajo.2017.06.020</RefLink> </Reference> </References> <Media> <Tables> <NoOfTables>0</NoOfTables> </Tables> <Figures> <Figure format="png" height="426" width="913"> <MediaNo>1</MediaNo> <MediaID>1</MediaID> <Caption><Pgraph><Mark1>Figure 1: a) The fundus photo shows the sharply defined small pigmented lesion. b) The fluorescein angiogram showed </Mark1><LineBreak></LineBreak><Mark1>block fluorescence at the area of pigmentation and window defect at the marginal depigmentation.</Mark1></Pgraph></Caption> </Figure> <Figure format="png" height="845" width="912"> <MediaNo>2</MediaNo> <MediaID>2</MediaID> <Caption><Pgraph><Mark1>Figure 2: a) The OCT scan through the lesion, shows a hyperreflective lesion at the surface with shadow effect. </Mark1><LineBreak></LineBreak><Mark1>b) The OCT scan through the depigmented margin shows surface lesion with shadow effect.</Mark1></Pgraph></Caption> </Figure> <NoOfPictures>2</NoOfPictures> </Figures> <InlineFigures> <NoOfPictures>0</NoOfPictures> </InlineFigures> <Attachments> <NoOfAttachments>0</NoOfAttachments> </Attachments> </Media> </OrigData> </GmsArticle>