Congenital Hypertrophy Of The Retinal Pigment Epithelium Research Articles

Benign Lobular Inner Nuclear Layer Proliferation associated with Congenital Hypertrophy of the Retinal Pigment Epithelium

Purpose: To report two cases of benign intraretinal tumors of the inner nuclear layer (INL) associated with congenital hypertrophy of the retinal pigment epithelium (CHRPE). Methods: Multimodal imaging of two cases, including fundus color and autofluorescence photography, structural and en face spectral-domain optical coherence tomography (SD-OCT), OCT-angiography, fluorescein and indocyanine green angiography. Results: During a routine examination, intraretinal tumors of the INL associated with several CHRPE lesions were observed in one eye of two male patients, aged 27 and 32 years, respectively. Multimodal imaging showed white multifocal lobulated lesions with arching extensions, located in the INL, which allowed diagnosing benign lobular inner nuclear layer proliferation (BLIP). Conclusion: BLIP is a rare benign tumor located in the INL with a unique pattern and only 4 cases have been reported to date. The present two cases allowed confirming that BLIP is associated with CHRPE, suggesting a concomitant developmental anomaly of the RPE and the inner retina.

Multimodal Imaging and Follow-Up of a Nodule arising from Congenital Hypertrophy of the Retinal Pigment Epithelium

Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) is a benign ocular condition. Here, we present a rare case of a neoplasm arising from a CHRPE, diagnosed as retinal pigment epithelium (RPE) adenoma (epithelioma) or adenocarcinoma (malignant epithelioma). Utilizing multimodal imaging, we followed the lesion over a sixteen-month period, during which it showed stable size, absent exudation, and resolution of the overlying vitreous hemorrhage.

An update of the variant spectrum of the APC gene in Iranian familial adenomatous polyposis patients

Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal cancer syndrome that is characterized by the development of multiple adenomas in the colon and rectum with high penetrance rates. This disease has specific features like the occurrence of pathogenic variations in the APC gene and diverse FAP phenotypes due to the occurrence region. In this study we aimed to evaluate pathogenic variants in exons of the APC gene in Iranian patients with FAP. A total of 35 FAP individuals were referred to the gastroenterology ward of Taleghani Hospital. As the aim of the study was to study the germline variations in the participants, the peripheral blood was collected and after the DNA extraction, PCR, and Sanger sequencing processes for the APC gene, the results were evaluated by the ACMG classification guidelines to report their pathogenicity. Accordingly, out of eight specific detected variants, three of them were novel, and the rest were reported previously. These eight variants were all truncating protein and pathogenic, and they were limited to 849–1378 codons. Overall, detected variants revealed discrepancies and parallels with previous reported cases in terms of quantity, occurrence region, and association with demographic and clinicopathological characteristics of patients. The spectrum of detected variants and the patient’s phenotype showed distinct characteristics, such as occurrence in specific regions and the absence of extracolonic symptoms like Congenital hypertrophy of the retinal pigment epithelium (CHRPE). These findings open the path to comprehending the typical symptoms, their rarity, and their occurrence in the Iranian population and also due to the facts, we found that the studying of the APC gene alone for diagnosing FAP disease is not sufficient, and considering other genes are completely rational in the case of sequencing and studying the variants.

Hamartomas of the Retina and Optic Disc.

Hamartomas are local malformation of cells that demonstrate abnormal proliferation in the area where they are normally present. Retinal and optic disc hamartomas include astrocytic hamartoma, congenital hypertrophy of the retinal pigment epithelium (CHRPE), simple congenital hamartoma of the retinal pigment epithelium (CSHRPE), combined hamartoma of the retina and retinal pigment epithelium (CHRRPE), retinal hemangioblastoma (retinal capillary hemangioma), and retinal cavernous hemangioma. Retinal and optic disc hamartomas can be observed sporadically as well as with systemic associations. Astrocytic hamartoma usually appears as a flat, transparent yellowish lesion. CHRPE is a round, pigmented, and flat lesion. CSHRPE usually presents as a dark black macular tumor. CHRRPE consists of vascular, glial, and pigment epithelial components, which can demonstrate peripapillary, macular, and peripheral localization. Retinal hemangioblastoma is a vascular tumor, red-pink in color with tortuous and dilated afferent and efferent vessels, typically located in the peripheral retina or optic disc. Retinal cavernous hemangioma is characterized by the formation of thin-walled saccular angiomatous structures in the retina or optic nerve head resembling concord grapes. Ultrasonography, fundus autofluorescence, optical coherence tomography, optical coherence tomography angiography, and fluorescein angiography methods are used in the diagnosis of retinal and optic disc hamartomas. Some retinal and optic disc hamartomas do not require treatment. However, complications including vitreous hemorrhage, macular exudation, retinal detachment, macular hole, epiretinal membrane, and choroidal neovascularization require treatment.

Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium

To report the clinical and imaging findings of 4 patients with benign intraretinal tumors, 2 of which were associated with retinal pigment epithelium (RPE) hypertrophy. To our knowledge, this condition has not been described previously and should be distinguished from retinoblastoma and other malignant retinal neoplasms. Retrospective case series. Four patients from 3 institutions. Four patients with intraretinal tumors of the inner nuclear layer (INL) underwent a combination of ophthalmic examination, fundus photography, fluorescein angiography, OCT, OCT angiography, and whole exome sequencing. Description of multimodal imaging findings and systemic findings from 4 patients with benign intraretinal tumors and whole exome studies from 3 patients. Six eyes of 4 patients 5, 13, 32, and 27 years of age were found to have white intraretinal tumors that remained stable over the follow-up period (range, 9 months-4 years). The tumors were unilateral in 2 patients and bilateral in 2 patients. The tumors were white, centered on the posterior pole, and multifocal, with some consisting of multiple lobules with arching extensions that extended beyond the central tumor mass. OCT demonstrated these lesions to be centered within the INL at the border of the inner plexiform layer. In addition, 2 patients demonstrated congenital hypertrophy of the RPE (CHRPE) lesions. Three of 4 patients underwent whole exome sequencing of the blood that revealed no candidate variants that plausibly could account for the phenotype. We characterize a novel benign tumor of the INL that, in 2 patients, was associated with separate CHRPE lesions. We propose the term benign lobular inner nuclear layer proliferation to describe these lesions. Proprietary or commercial disclosure may be found after the references.

Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) as a Screening Marker for Familial Adenomatous Polyposis (FAP): Systematic Literature Review and Screening Recommendations.

PurposeFamilial adenomatous polyposis (FAP) has an almost 100% colorectal cancer risk warranting early detection in gene carriers. This study presents congenital hypertrophy of the retinal pigment epithelium (CHRPE) as a highly specific phenotypical marker for FAP that can be used in screening at-risk individuals. Screening recommendations including morphological subclassification were formulated with supporting literature.MethodsA systematic literature review with a comprehensive search strategy was conducted using online databases. Manual searches of bibliographies and reference lists were also performed. Studies meeting inclusion criteria were graded with respect to their hierarchy of evidence and strength of recommendations according to the National Health and Medical Research Council (NHMRC) guidelines of Australia.ResultsAlmost 4500 participants were analysed across 28 included studies. The mean specificity of CHRPE as a phenotypical screening marker of FAP was 89% (standard deviation (SD); 14) with a mean sensitivity of 79% (SD; 8). The mean prevalence of CHRPE amongst FAP participants; at-risk participants were found to be 76% (SD; 24) and 37% (SD; 21) respectively. Bilateralism and multiple lesion number ≥3 are features highly specific for FAP.ConclusionCHRPE was found to be a non-invasive, rapid, early phenotypical screening marker of FAP. Clinical recognition further allows increased gene analysis efficiency. The absence of CHRPE alone cannot exclude FAP. Our screening recommendations provide guidance to clinicians on evidence based CHRPE assessment. We would advocate inclusion of ocular examinations as part of a three-pronged approach, along with endoscopy and genetic testing, for efficient, timely FAP assessment in at-risk individuals.

Clinical Case of Huge Congenital Hypertrophy of the Retinal Pigment Epithelium Labeled as Choroidal Melanoma

A case of a 48-year-old woman who was referred to an Ocular Oncology Unit with a suspected choroidal melanoma diagnosis in her left eye, which final diagnosis was a congenital hypertrophy of the retinal pigment epithelium (CHRPE). No evidence of other ocular or general condition findings has been reported. Diagnostic, as well as the risks of malignancy, are discussed. We highlight the importance of performing an appropriate differential diagnosis of a large pigmented lesion detected on routine ocular examination due to the implications for the patient.

Suspect asymptomatic lesions: Congenital hypertrophy of the Retinal Pigment Epithelium (CHRPE)

Congenital hypertrophy of the retinal pigment epithelium is a rare benign tumor of the ocular fundus that may vary according to three types. It is frequently asymptomatic and diagnosed during routine ophthalmology exam. This lesion has an important differential diagnosis with retinal disease and may be related to systemic diseases, therefore, it is essential to recognize it and keep the follow-up. In this paper, three different cases of each type of CHRPE were described and documented. Abbreviations: CHRPE = Congenital hypertrophy of the Retinal Pigment Epithelium, RPE = Retinal Pigment Epithelium, CDVA = Corrected Distance Visual Acuity, PIO = Intraocular Pressure, FA = Fluorescein Angiography, FAP = Familial Adenomatous Polyposis, RPEH-FAP = Retinal Pigment Epithelial Hamartomas Associated with Familial Adenomatous Polyposis, OCT = Ocular Coherence Tomography

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

BackgroundThe 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.MethodsA 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).ResultsCase 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.ConclusionFAF 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.

Optical Coherence Tomography Characteristics of the Choroid Underlying Congenital Hypertrophy of the Retinal Pigment Epithelium

Purpose: This study evaluates and characterizes the choroid underlying congenital hypertrophy of the retinal pigment epithelium (CHRPE). Methods: Retrospective observational study of CHRPE at least 2 mm in diameter. Choroidal vascular architecture was qualitatively examined. Choroidal thickness was measured by 2 independent observers using enhanced depth imaging spectral domain optical coherence tomography. Results: Forty-six eyes of 46 patients with CHRPE were included. Thirty-two lesions had imaging sufficient for analysis. Haller’s layer was healthy in 18 (56%), thin in 13 (41%), and absent in 1 (2%). Sattler’s layer was atrophic in 30 (94%), and choriocapillaris was atrophic in 31 (97%). CHRPE with thinned Haller’s layer had significantly larger diameter. The mean sub-CHRPE choroidal thickness was 82.4 ± 7.9 µm, compared to a thickness of 148.4 ± 9.6 µm in the normal adjacent choroid (p < 0.0001). Mean retinal thickness overlying the CHRPE was 77.3 ± 4.3 µm, compared to a retinal thickness of 137.8 ± 2.9 µm overlying the normal adjacent choroid (p < 0.0001). Sub-CHRPE choroidal thickness was a mean of 56.2 ± 3.1% of the adjacent normal choroidal thickness. Conclusion: The underlying choroid CHRPE is thinner than the adjacent normal choroid. All layers of the choroid can be thin with a preference of the inner Sattler’s and choriocapillaris layers.

In patients with a positive family history of familial adenomatous polyposis can the condition be diagnosed from the presence of congenital hypertrophy of the retinal pigment epithelium detected via an eye examination: A systematic review.

In classic familial adenomatous polyposis (FAP) adenomas become malignant. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a retinal pigmented lesion and is the earliest and most common potential extraintestinal manifestation of FAP. This review aims to summarize and analyse all of the published data on CHRPE in patients with classic FAP and then ascertain whether these patients should undergo a relatively cheap and non-invasive dilated fundus examination to screen for CHRPE. Adhering to Preferred Reporting Items for Systematic Reviews and Meta Analyses guidelines our database search identified 102 relevant articles of which 13 were selected for further analysis. The percentage of FAP patients with CHRPE was found to be 80.00%, whereas the percentage of at-risk patients with CHRPE was 31.12%. Despite various statistically significant findings, CHRPE alone cannot be used as a surrogate for diagnosing FAP in those with a positive family history. The authors advocate a combined approach of eye examinations, colonoscopy and genetic testing.

Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.

Biallelic pathogenic variants (PVs) in MUTYH cause MUTYH-Associated Polyposis (MAP), which displays phenotypic overlap with other hereditary colorectal cancer (CRC) syndromes including Familial Adenomatous Polyposis (FAP) and Lynch syndrome. We report the phenotypic spectrum of MAP in the context of multi-gene hereditary cancer panel testing. Genetic testing results and clinical histories were reviewed for individuals with biallelic MUTYH PVs detected by panel testing at a single commercial molecular diagnostic laboratory. Biallelic MUTYH PVs were identified in 82 individuals (representing 0.2% of tested individuals) with most (75/82; 91.5%) reporting a personal history of CRC and/or polyps. Ten percent (6/61) of individuals reporting polyp number reported fewer than 10 polyps and therefore did not meet current MAP testing criteria. Extracolonic cancers (21/82; 25.6%), multiple primaries (19/82; 23.2%), Lynch-like (17/82; 20.7%) and FAP-like phenotypes (16/82; 19.5%) were observed, including individuals with mismatch repair-deficient tumors (3/82; 3.7%), sebaceous neoplasms (2/82; 2.4%), or congenital hypertrophy of the retinal pigment epithelium (CHRPE) (2/82; 2.4%). We report what is to our knowledge the first cohort of individuals with MAP identified by panel testing. The phenotypic spectrum of MAP observed in this cohort aligns with the published literature. In addition to standard indications for MUTYH testing, our data provide evidence to support consideration of MAP in the differential diagnosis for some individuals with fewer than 10 polyps, depending on other personal and/or family history, as well as for individuals suspected to have Lynch syndrome or FAP.

Congenital Hypertrophy of Retinal Pigment Epithelium for Diagnosis of Familial Adenomatous Polyposis - the First FAP registry in Iran

Objective:Familial adenomatous polyposis (FAP), an autosomal dominant inherited disorder is characterized by the presence of multiple adenomatous colorectal polyps, which can develop into cancer during early adulthood. Therefore, early diagnosis is essential. Most FAP patients have several extracolonic manifestations, including congenital hypertrophy of the retinal pigment epithelium (CHRPE). Whereas genetic markers may provide the main route to detection of “at risk” subjects , at present this approach is clearly limited and searches for a noninvasive phenotypic marker continue to be high priority. The aim of this study was to describe the pattern of distribution of CHRPE lesions and evaluate their diagnostic value in FAP patients and their family members in a local population.Methods:A total of 23 FAP patients and 26 relatives belonging to 12 families at high risk of developing FAP were subjected to colonoscopic and ophthalmological examination.Result:Retinal examinations demonstrated prevalences of CHRPE in FAP patents and their siblings of 78% and 38%, respectively. We were able to illustrate a significant correlation between FAP disease and the presence of retinal lesions. Sensitivity and specificity of CHRPE as a screening test to detect the presence of FAP are 78.3% and 61.5%, respectively, with a positive predictive value of 64.3% and a negative predictive value of 76.2 %. A “lesion form” significant difference was found between FAP and normal participants. Spearman nonparametric analysis revealed no correlation between age and number or size of lesions.Conclusion:Multiple CHRPE lesions are a diagnostic feature of FAP patients They are specific and sensitive clinical markers of this disease (specificity 60% and sensitivity 77%).

The significance and interpretation of congenital hypertrophy of the retinal pigment epithelium (CHRPE) diagnosed in patients with Familial Adenomatous Polyposis: A review

The significance and interpretation of congenital hypertrophy of the retinal pigment epithelium (CHRPE) diagnosed in patients with Familial Adenomatous Polyposis: A review

Juxtapapillary tumors and pseudo‐tumors of the retinal pigmented epithelium

SummaryThe most conspicuous retinal pigment epithelium (RPE)‐associated lesion, most of which typically occur in the peripapillary region, is known as the combined hamartoma of the retina and the RPE although not all of them extend to the level of the RPE. This congenital lesion, which also has a vascular and an epiretinal component, often will slowly evolve during observation, not infrequently leading to reduced vision from distortion of the macula. It appears as a greyish‐brown, slightly elevated fundus lesion. It may be associated with neurofibromatosis type 2, although most seem to be isolated. None of the other RPE lesions occurs predominantly in the peripapillary region, although congenital hypertrophy of the RPE, simple hamartoma of the RPE, adenomas and adenocarcinomas of the RPE, and acquired reactive proliferations leading to RPE hyperplasia can do so. Except for the first one, these are slightly to moderately elevated lesions. Finally, rare congenital pigmentary changes such as pigmented optic disk, thought to be of RPE origin, can sometimes be observed.

Tumors and Related Lesions of the Pigmented Epithelium.

Several tumors and pseudotumors can arise from the iris pigment epithelium (IPE), ciliary pigment epithelium (CPE), and retinal pigment epithelium (RPE), including cysts of the IPE, solitary congenital hypertrophy of the RPE (CHRPE), multifocal CHRPE ("bear tracks"), congenital simple hamartoma of the RPE, combined hamartoma of the retina and RPE, and acquired epithelioma of IPE, CPE, and RPE. This article describes examples of pigment epithelial tumors and pseudotumors by reviewing the literature and cases on file in the Oncology Service at Wills Eye Hospital. Solitary CHRPE, traditionally believed to be stationary, can show growth in diameter in 83% and can spawn elevated nodular tumors that can progressively enlarge, cause complications, and even evolve into malignant epithelioma (adenocarcinoma). Multifocal CHRPE (congenital grouped pigmentation) has no relationship to familial adenomatous polyposis or Gardner syndrome, despite its similarity to the pigmented fundus lesions seen with those conditions. Congenital simple hamartoma of the RPE is a specific lesion that involves the fovea and does not tend to cause complications. Combined hamartoma, an idiopathic proliferation of RPE cells, blood vessels, and glial cells, is also believed to be a relatively stable lesion but can cause vision loss due to traction. Acquired tumors (adenoma, adenocarcinoma) have features distinct from melanoma clinically and histopathologically. Torpedo maculopathy is a small stable lesion with typical features, resembling a torpedo. There are several intriguing tumors and pseudotumors of the pigmented epithelium that have major clinical and histopathologic importance.

Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening.

Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma. For hepatoblastoma screening, the majority did recommend this in children less than age five years with known APC mutations. An interval of every 3-6months was most commonly suggested; however, responses extended to screening on a less than annual basis. These results highlight the need for further investigation into why some genetic counselors do not recommend APC testing in young at-risk children and what factors influence views about the ideal age and indication for APC testing. Studies of these issues would help to define the best clinical practice model for genetic testing and hepatoblastoma screening in pediatric patients with FAP.

Evaluation of Retinal Pigment Epithelial Hamartoma Using Oct – A Case Summary

Tumours of the Retinal Pigment Epithelium (RPE) are uncommon. They are classified into four groups including CSHRPE, congenital hypertrophy of the RPE, combined hamartoma of the retina and RPE and adenoma or adenocarcinoma of the RPE.

Abstract 5140: TALEN mediated mutation of apc and β-catenin in Xenopus tropicalis as powerful models for Wnt driven cancer and Familial Adenomatous Polyposis (FAP)

Abstract Hyperactivation of the Wnt pathway is a common hallmark of many cancers. Deregulation of the pathway is mostly due to mutations in the tumor suppressor gene Adenomatous Polyposis Coli (APC) or the transcriptional regulator of the Wnt pathway β-catenin (CTNNB1). Heterozygous germline mutations in the Mutation Cluster Region (MCR) of the APC gene cause Familial Adenomatous Polyposis (FAP), a condition characterized by multiple colorectal polyps, which over time become malignant. FAP patients also frequently suffer from extracolonic manifestations, such as Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE), desmoid tumors and medulloblastoma. Despite many mouse models and the clear etiology of colorectal cancer and FAP, no drugs targeting the Wnt pathway have reached the clinic and there is a need for new genetic animal models. The recent TALEN (Transcription Activator Like Effector Nuclease) and CRISPR/Cas9 gene targeting technologies open the door for novel genetic cancer models. Xenopus tropicalis, an aquatic tetrapod with a true diploid genome, offers unique experimental opportunities to model human cancer. We have adopted the TALEN technology in Xenopus tropicalis to generate a model for Wnt deregulated cancer, by targeting either APC or β-catenin. Targeting of the apc gene in the MCR region induces phenotypes reminiscent of FAP in tadpoles and froglets, including hyperplasia of the intestinal epithelium, desmoid tumors, retinal hyperproliferation and medulloblastoma. These neoplasms show bi-allelic truncating mutations in the apc gene, associated with activation of the Wnt signalling pathway and increased cell proliferation. Secondly, we generated a more direct model for the hyperactivation of the Wnt pathway by developing TALENs against the Ser33 phosphorylation site of β-catenin. Small in frame deletions removing this phosphorylation site will result in a stabilized dominant active form of β-catenin, activating Wnt signalling at the transcriptional endpoint. Injection of this TALEN pair induces similar neoplasms as apc TALEN injection, including desmoid and brain tumors, indicating that these tumors are the consequence of activated Wnt signalling, rather than any of the other disrupted functions of APC. In addition we were able to achieve very efficient double bi-allelic mutation of apc and other genes in different tumors by co-injection of two TALEN pairs. This creates the opportunity to use our model for therapeutic target validation, simply by co-injection of TALENs (or CRISPR/Cas9) against potential targets together with the apc TALENs. We have developed the first genetic cancer models in Xenopus tropicalis by using apc or β-catenin TALENs. These models closely resemble human FAP and will be used for preclinical drug screening and to evaluate potential novel therapeutic targets by multiplexed gene targeting via TALEN and CRISPR/Cas9 technology. Citation Format: Tom Van Nieuwenhuysen, Thomas Naert, David Creytens, Frans Van Roy, Kris Vleminckx. TALEN mediated mutation of apc and β-catenin in Xenopus tropicalis as powerful models for Wnt driven cancer and Familial Adenomatous Polyposis (FAP). [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 5140. doi:10.1158/1538-7445.AM2015-5140

Early Detection of CHRPE and Subsequent Familial Adenomatous Polyposis Syndrome by Ultra-Wide Field Retinal Laser Scanning Technology

Introduction: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) has been associated with familial adenomatous polyposis (FAP) and may be the first presenting feature of the disease process. This case presents the diagnosis of CHRPE by ultra-wide field retinal laser scanning technology. A 68-year-old male who was seen in the outpatient ophthalmologic care setting for post-op follow-up 1 month after photorefractive keratectomy (PRK) of OU in both eyes and correction of retinal detachment (RD) of the (OS) left eye. This patient has also previously tolerated phacoemulsification (PE) and intraocular lens placement (IOL), with open capsule for a cataract and Lasik surgery of OU without complication. Patient came in with complaints of his distance vision not being as clear as before the RD. Near is closer in the OS than before. Post-op follow up included ultra-wide field retinal laser scanning that reveal an OS peripheral CHRPE, and vitelliform dystrophy. We recommended IOL and referred the patient to oncology and gastrotroenterology, where he was diagnosed and treated as a new incident case of FAP. The most common and very first extracolonic manifestation is CHRPE, with reports of expression in 36-90% of FAP kindred, and with a specificity of 95% for being a carrier of the APC tumor suppressor gene deletion that leads to FAP. This tumor suppressor gene was identified at the long arm of chromosome 5 (5q21). Guidelines using older technology recommended that patients with more than 3 CHRPE in 1 eye or bilateral CHRPE, as well as patients with a positive family history and 1 unilateral CHRPE require further gastroenterological evaluation. In the future, the use of ultra-wide field retinal laser technology may detect CHRPE earlier than standard diagnostics, and subsequently lead to timely care for FAP.Figure 1