Hypertrophy Of Retinal Pigment Epithelium Research Articles

Congenital Grouped Pigmentation of the Retina

Congenital grouped pigmentation of the retina or bear track spots is an uncommon anomaly characterized by multiple, grouped, sharply circumscribed, pigmented spots and no visual dysfunction. We present a case of congenital grouped pigmentation of the retina in a 70-year-old woman. Ophthalmoscopy revealed multiple well‑demarcated, flat, brownish‑black pigmented lesions in superonasal quadrant in the right eye. We discussed congenital grouped pigmentation of the retina and congenital hypertrophy of retinal pigment epithelium.

Familial adenomatous polyposis associated with malignancy

Background Familial adenomatous polyposis (FAP) is a rare genetic disorder that is inherited in an autosomal dominant fashion. This disease is caused by a germline mutation in the APC gene, but in 20-30% of cases the disease occurs due to de novo mutations. There are several forms of the disease from severe, which is characterized by a pronounced number of polyps throughout the gastrointestinal tract (GIT) to a mild (attenuated) form of FAP, with less than 100 colonic polyps. According to various scientific literature, the risk of malignancy of epithelial formations reaches 100%. Identified epithelial formations of the gastrointestinal tract will lie down for endoscopic or surgical treatment. FAP is also characterized by neoplasms of extraintestinal localization, which characterizes it as a multisystem syndrome. There is a high risk of developing congenital retinal pigment epithelium hypertrophy, bone osteoma, fibroma, angiofibroma of the nose, thyroid carcinoma, hepatoblastoma, brain tumor and pancreatic tumor. Congenital retinal hypertrophy is the earliest extraintestinal manifestation of FAP. Thyroid cancer in young people, as a rule, is diagnosed first and serves as the basis for a comprehensive endoscopic diagnosis of the gastrointestinal tract. We present a rare case of FAP in a 14-year-old child associated with malignant neoplasms of extraintestinal localizations.

Macular Anatomy and Abnormalities in Neurofibromatosis Type 2

Purpose: To describe macular anatomy and abnormalities on Spectral-Domain Optical Coherence Tomography (SD-OCT) in a large series of patients with Neurofibromatosis Type 2 (NF2). Methods: Retrospective review of all consecutive patients with NF2. Results: A total of 166 eyes in 83 patients with NF2 were identified from February 2014 to May 2015. Macular SD-OCT was available for 124 eyes (75%). Isolated epiretinal membrane (ERM) was diagnosed in 52% of patients (n=43) with bilateral ERM in 15 cases. ERM was commonly fine (64%), non-retractile (90%), extra-foveolar (90%), discontinuous (78%) and without posterior vitreous detachment (93%). Combined Hamartoma of the Retina and Retinal Pigmented Epithelium (CHRRPE) was seen in 12% of patients (n=10); three of which were bilateral. Additional OCT anomalies identified include Congenital Hypertrophy of Retinal Pigment Epithelium (CHRPE), internal limiting membrane irregularities, inner retinal tufts, serpentine-like extensions into the vitreoretinal interface, focal alterations of inner retinal lamination and infiltration of the posterior vitreous cortex. All retinal anomalies identified suggest pathological involvement of Müller cells. Conclusion: Our series underscores the utility of macular SD-OCT in patients with NF2. While ERM and vitreoretinal interface abnormalities are the most common macular pathology identified in NF2, all SD-OCT pathology suggests Muller cell involvement.

A Case of Large Solitary Congenital Hypertrophy of the Retinal Pigment Epithelium

Congenital hypertrophy of retinal pigment epithelium (CHRPE) is a benign, pigmented, flat lesion arising from the retinal pigment epithelium. We present a case of relatively large CHRPE in a 45-year-old woman. Ophthalmoscopy revealed a well‑demarcated, flat, brownish‑black pigmented lesion with lacunae in inferonasal quadrant in the left eye. The size of the lesion was approximately 12 mm, which was relatively large compared to previous reports.

White and dark without pressure with congenital hypertrophy of retinal pigment epithelium

White and dark without pressure with congenital hypertrophy of retinal pigment epithelium

Retinal Vascular Patterns and Capillary Plexus Reflectivity of Intraocular Tumors; an Optical Coherence Tomography Angiography Study

Purpose To define the vascular characteristics of malignant and benign intraocular tumors by optical coherence tomography angiography (OCTA) and consequently to determine the advantages and disadvantages of the imaging technique in clinical practice. Methods This prospective, descriptive study consisted of choroidal hemangioma, choroidal nevus, choroidal melanoma, ocular melanocytoma, congenital hypertrophy of retinal pigment epithelium (CHRPE), and choroidal osteoma. Retinal angiography images were taken by OCTA in a 6 × 6 mm HD scan protocol. OCTA characteristics were defined by considering different tumor types separately. Results This study included 93 eyes of 90 patients diagnosed with benign or malignant intraocular tumors. The mean age of the patients was 48.9 ± 16.9 years in the hemangioma group, 55.3 ± 12.9 years in the nevus group, 48.2 ± 13.4 years in the melanoma group, 48 ± 18.9 years in the melanocytoma group, 45 ± 22.9 years in the CHRPE group, and 27.8 ± 7.8 years in the osteoma group. We showed four vascular patterns at the level of the choriocapillaris layer in circumscribed choroidal hemangiomas – the appearance of a “bag of worms,” club-like appearance, giant choroidal vessels and normal choriocapillaris. The rates of these vascular patterns were 40%, 30%, 10%, and 20% in treatment-naïve hemangiomas and were 46.1%, 30.8%, 7.7%, and 15.4% in photodynamic therapy-treated hemangiomas, respectively. There was no different vascular structure in the tumor associated with the lesion in the nevus group. There were three different patterns at the choriocapillaris level in the melanomas – a vascular network (10%), avascular areas (30%) and vascular loops (60%). There were some atypical and nonspecific vascular changes demonstrated in the CHRPE and osteoma groups and a fine vascular network was observed in the melanocytoma group. Conclusion The different types of intraocular tumors had specific vascular characteristics which were easily demonstrated by the OCTA machine. This imaging technique can be a useful tool to differentiate these intraocular tumors non-invasively.

Bear walks into the forest

Bear walks into the forest

Congenital hypertrophy of the retinal pigment epithelium in the patients with familial adenomatous polyposis colon (case report)

Familial adenomatous polyposis is one of the most difficult to diagnose diseases in medical practice, at an early stage, multiple colorectal adenomas are clinically most often not manifested in any way, and at a later stage they inevitably transform into colorectal cancer. Poor clinical manifestation rarely make it possible to establish a diagnosis before the onset of malignancy, so extraintestinal symptoms can be a lifeline in the diagnosis of this disease. Congenital retinal pigment epithelium hypertrophy is a benign tumor that develops from the retinal pigment epithelium and can occur both in an isolated form and in patients with familial adenomatous polyposis of the colon. Unfortunately, in the Russian-language clinical literature there are practically no scientific papers devoted to this problem. Clinical case of patient P., 35 years old, who was routinely admitted to the surgical unit with a diagnosis of familial adenomatous polyposis is presented. During the additional examination, multiple tumor-like lesions of the eyes were revealed according to the type of hypertrophy of the retinal pigment epithelium. From the anamnesis, it was found out that in 2017 the patient underwent a check-up by an ophthalmologist, where an early pathological condition was detected for the first time, but the doctor’s attention was not paid to this clinical manifestation, and the patient was not subsequently referred for a consultation with a coloproctologist with suspicion of familial adenomatous polyposis.

Study of diagnostic value of congenital hypertrophy of retinal pigment epithelium in Chinese familial adenomatous polyposis patients.

Congenital hypertrophy of retinal pigment epithelium (CHRPE) is an important characteristic of familial adenomatous polyposis (FAP) patients. However, more evidence about its sensitivity, specificity, and diagnostic value for FAP is needed to determine whether CHRPE is a reliable marker. Clinical features of FAP patients were investigated using in-person evaluations. Family members of FAP patients were evaluated with an indirect ophthalmoscope to determine whether they had CHRPE. We defined three diagnostic criteria for CHRPE (criteria A, B and C) based on their shape, quantity and size. Those with negative colonoscopy results and gene mutation results were classified as healthy controls. Of a total of 23 FAP families, 21 families were CHRPE-positive (91.3%). Among those 21 families, 47 individuals had CHRPE, including 33 FAP patients, 9 APC gene mutation carriers, and 5 individuals younger than 18 years who were later confirmed to have FAP. Fifty individuals had no CHRPE (5 FAP patients and 45 individuals without APC gene mutations and colorectal adenoma). The average number of CHRPE lesions per person was 5.81, and CHRPE was located mostly in the posterior pole in the eye fundus; 76.7% of individuals had CHRPE in both eyes. The sensitivity of the three CHRPE criteria ranged from 78.8 to 90.4%, with the highest sensitivity found for criterion A (90.4%), which had a specificity of 100% for healthy controls and sporadic colorectal cancer patients. CHRPE has vital diagnostic and screening value because of its high sensitivity for discovering FAP and APC gene mutation carriers.

OCT Angiography of Peripapillary Congenital Hypertrophy of Retinal Pigment Epithelium

OCT Angiography of Peripapillary Congenital Hypertrophy of Retinal Pigment Epithelium

Small choroidal melanoma and pseudomelanomas: methods of differential diagnostics (literature review). Part 3

The third part of literature review (see first part in ROJ 2019; 12 (4): 99–108, second part in ROJ 2020; 13 (2): 88–98) discusses the features characteristic of small uveal melanoma and pseudomelanomas (choroidal nevus, circumscribed choroidal hemangioma, melanocytoma, choroidal metastatic carcinoma, congenital hypertrophy of retinal pigment epithelium, late-stage age-related macular degeneration, focal retinochoroiditis, organized subretinal hemorrhage, retinal hemangioma) which were revealed by optical coherence tomography and optical coherence tomography-angiography. The need for further comparative studies aimed at defining differential diagnostic is emphasized.

Spontaneous Background and Procedure-Related Microscopic Findings and Common Artifacts in Ocular Tissues of Laboratory Animals in Ocular Studies.

Identification of test article-related microscopic findings in ocular toxicology studies requires a working knowledge of the artifacts and procedure-related or background findings commonly encountered in such studies. The objective of this article is to provide a mini-atlas of the artifacts and procedure-related or spontaneous background findings commonly observed in ocular tissues from animals in toxicology studies of ocular drug candidates. Artifacts in the eye are often related to collection or fixation procedures and include swelling and vacuolation of lens fibers, separation of the neuroretina from the retinal pigment epithelium (RPE), and vacuolation of the optic nerve. Common in-life procedure-related findings include intravitreal injection needle tracks in the sclera and ciliary body pars plana and foci of RPE hypertrophy and/or hyperpigmentation at subretinal injection sites. Common background findings include corneal mineralization, uveal mononuclear cell infiltrates, and peripheral displacement of photoreceptor nuclei in the retina. A few uncommon spontaneous background findings that may be confused with test article-related findings, such as bilateral optic atrophy in macaques, are also included.

Congenital hypertrophy of retinal pigment epithelium

A 45-year-old man was referred to the ocular oncology service for evaluation due to a black asymptomatic lesion in his right eye. His medical history included hyperlipidemia and high myopia....

Congenital hypertrophy of retinal pigment epithelium (CHRPE) with typical ‘bear track’ presentation

Congenital hypertrophy of retinal pigment epithelium (CHRPE) with typical ‘bear track’ presentation

Multimodal imaging in circumpapillary congenital hypertrophy of retinal pigment epithelium.

Multimodal imaging in circumpapillary congenital hypertrophy of retinal pigment epithelium.

Ruptured unilateral anterior lenticonus with congenital hypertrophy of retinal pigment epithelium: A rare association.

Ruptured unilateral anterior lenticonus with congenital hypertrophy of retinal pigment epithelium: A rare association.

Small choroidal melanoma and pseudomelanomas: methods of differential diagnostics. Part 1

Choroidal melanoma is a malignant tumor prone to early metastasis. Its clinical picture is polymorphic, as a result of which it can simulate many diseases of the fundus, which are referred to in the literature as pseudomelanomas. Among these are: choroidal nevus, localized choroidal hemangioma, melanocytomas, choroidal metastatic carcinoma, congenital hypertrophy of retinal pigment epithelium, late stage of age-related macular degeneration, focal retinal choroiditis, organized subretinal hemorrhage, retinal hemangiomas. However, studies comparing the clinical signs of all listed pseudomelanomas and small choroidal melanoma are few. The first part of the review describes the ophthalmoscopic picture of the small choroidal melanoma and pseudomelanomas.

Liver-Specific, but Not Retina-Specific, Hepcidin Knockout Causes Retinal Iron Accumulation and Degeneration

The liver secretes hepcidin (Hepc) into the bloodstream to reduce blood iron levels. Hepc accomplishes this by triggering degradation of the only known cellular iron exporter ferroportin in the gut, macrophages, and liver. We previously demonstrated that systemic Hepc knockout (HepcKO) mice, which have high serum iron, develop retinal iron overload and degeneration. However, it was unclear whether this is caused by high blood iron levels or, alternatively, retinal iron influx that would normally be regulated by retina-produced Hepc. To address this question, retinas of liver-specific and retina-specific HepcKO mice were studied. Liver-specific HepcKO mice had elevated blood and retinal pigment epithelium (RPE) iron levels and increased free (labile) iron levels in the retina, despite an intact blood-retinal barrier. This led to RPE hypertrophy associated with lipofuscin-laden lysosome accumulation. Photoreceptors also degenerated focally. In contrast, there was no change in retinal or RPE iron levels or degeneration in the retina-specific HepcKO mice. These data indicate that high blood iron levels can lead to retinaliron accumulation and degeneration. High blood iron levels can occur in patients with hereditary hemochromatosis or result from use of iron supplements or multiple blood transfusions. Our resultssuggest that high blood iron levels may cause or exacerbate retinal disease.

CONGENITAL HYPERTROPHY OF RETINAL PIGMENT EPITHELIUM (CHRPE) WITH TYPICAL ‘BEAR TRACK’ PRESENTATION

Congenital hypertrophy of retinal pigment epithelium (CHRPE) with typical ‘bear track’ presentationFamilial adenomatous polyposis (FAP) is an autosomal dominant condition caused by a mutation in APC tumor suppressor gene (chromosome 5q21).Affected patients have variable number of adenomatous polyps, mostly in the large intestine, that have nearly 100 percent progression to colorectal cancer with extracolonic manifestations such as desmoid tumours, osteomas, dental anomalies, and soft-tissue tumours.Solitary congenital hypertrophy of retinal pigment epithelium (CHRPE) and its multi focal variant, congenital grouped pigmentation (bear tracks), are isolated ophthalmic entities and are not associated with FAP and Gardner syndrome. Retinal pigment epithelium lesions seen with FAP are ovoid ,multifocal , bilateral with irregular borders, haphazardly distributed with peripheral location often with a white tail of depigmentation at margins.Patients found to have solitary or multifocal CHRPE on ophthalmoscopy can be counselled that they do not have an increased risk of colon cancer compared with that of the general population.

Multimodal imaging of congenital hypertrophy of retinal pigment epithelium (chrpe) lesions at different presentations.

Purpose: To describe the clinical presentation, fundus autofluorescence (FAF), optical coherence tomography (OCT) and OCT angiography (OCT-A) features of all three types of CHRPE: a solitary type, grouped configuration bear tracks and multifocal type with the systemic association. Methods: A comprehensive eye examination included measurement of presenting and best-corrected vision, applanation intraocular pressure (IOP), slit-lamp biomicroscopy and dilated fundus examination. The retinal imaging included fundus photography, FAF, OCT, and OCT-A. Results: The study included retinal imaging of 3 varieties of CHRPE seen in 3 patients on routine eye examination. In all patients vision was 20/20, N6 in both eyes, and IOP was 14-18 mmHg. Fundus showed bilateral, multifocal, flat, pigmented retinal lesions (Case 1), solitary, the well-circumscribed lesion (Case 2) and multiple small, flat, pigmented lesions (Case 3). FAF in all 3 variants showed hypoautofluorescence corresponding to the area of the lesion with isolated areas of is fluorescence in areas of lacunae. OCT in CFase 1 and 2 showed increased reflectance of RPE layer with outer retinal layer abnormalities whereas in Case 3 showed normal RPE layer. OCT (Case 1) also revealed thickening of RPE associated with the intraretinal extension. OCTA of outer retinal layers in Case 1 and 2 showed vascular attenuation over the CHRPE lesion with hyporeflective areas whereas in Case 3 it was normal. Conclusion: A careful clinical examination with multimodal imaging helps to differentiate a benign variant of CHRPE from its counterpart associated with systemic features.