Atypical hypertrophy of retinal pigment epithelium manifesting as the first sign of familial adenomatous polyposis.

A female patient in her 20s presented to a routine ophthalmology appointment. Medical history was unremarkable. Family history was notable for intestinal cancer of a second-degree relative, diagnosed in her late 60s. Fundus examination revealed bilateral, multiple, flat, oval, pigmented lesions with an irregular halo of atrophy. The patient was diagnosed with atypical congenital hypertrophy of retinal pigmented epithelium. Investigation of extraocular associations was performed, including upper and lower endoscopy, which revealed 500-1000 colonic polyps with a maximum size 25 mm. Pathology did not reveal submucosal invasion. Genetic testing detected an adenomatous polyposis coli mutation (heterozygotic variant c.3183_3187delACAAA p.(Gln1062*)).

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

PURPOSE: 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. DESIGN: Retrospective case series. PARTICIPANTS: Four patients from 3 institutions. METHODS: 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. MAIN OUTCOME MEASURES: Description of multimodal imaging findings and systemic findings from 4 patients with benign intraretinal tumors and whole exome studies from 3 patients. RESULTS: 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. CONCLUSIONS: 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. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.

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

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: CHRPE has vital diagnostic and screening value because of its high sensitivity for discovering FAP and APC gene mutation carriers.

ATYPICAL CONGENITAL HYPERTROPHY OF THE RETINAL PIGMENT EPITHELIUM COMPLICATED BY PRESUMED RETINAL PIGMENT EPITHELIAL ADENOMA AND EXUDATIVE MACULOPATHY.

PURPOSE: To report a retinal pigment epithelium (RPE) tumor with exudative maculopathy, originating from an atypical RPE lesion presumed to represent congenital hypertrophy of the RPE or RPE hyperplasia. METHODS: Multimodal imaging including fundus autofluorescence, optical coherence tomography, fluorescein angiography, and optical coherence tomography angiography. RESULTS: A 76-year-old West African man noted visual acuity reduction to count fingers in the right eye and 20/400 in the left eye. Features of chronic glaucoma were noted. In addition, there was a fairly well-circumscribed darkly pigmented RPE lesion in the paramacular region in the right eye, measuring 4 mm in diameter and flat and consistent with atypical congenital hypertrophy of the RPE or RPE hyperplasia. On the posterior margin of this mass was an RPE tumor, presumed to represent RPE adenoma, producing exudative maculopathy and cystoid macular edema. Multimodal imaging was used to distinguish the RPE tumor from macular neovascularization. A similar atypical congenital hypertrophy of the RPE without retinopathy measuring 3.5mm in diameter was noted in the temporal macular region in the left eye. After six monthly doses of intravitreal bevacizumab (1.25 mg/0.05 mL) in the right eye, the maculopathy resolved and the RPE mass showed partial involution with visual acuity return to baseline 20/200. CONCLUSION: Congenital hypertrophy of the RPE and RPE hyperplasia can produce RPE adenoma with related exudative maculopathy. In this case, the maculopathy responded to bevacizumab.

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.

Ocular coherence tomography angiography features of congenital hypertrophy of retinal pigment epithelium.

Congenital hypertrophy of retinal pigment epithelium (CHRPE) is a benign, pigmented, flat lesion arising from the retinal pigment epithelium (RPE). In this study, we describe optical coherence tomography angiography (OCTA) features of two eyes with solitary CHRPE. We found that the retinal vasculature over CHRPE was normal in both cases. We observed that in solitary CHRPE, segmentation artifacts can interfere in the interpretation of retinal vasculature due to thinning of the outer retina. Visualization of the underlying choroidal vasculature was obscured to some extent by masking effect of the hyperpigmented RPE. The choroidal vasculature was better appreciated on en face OCTA. On OCTA, the retinal and choroidal vasculature associated with CHRPE was found to be normal in our study.

Coexisting White and Dark Without Pressure Abnormalities Surrounding Congenital Hypertrophy of the Retinal Pigment Epithelium.

The authors report a case of coexisting white and dark without pressure abnormalities surrounding a small congenital hypertrophy of the retinal pigment epithelium and showing corresponding hyperreflectivity and hyporeflectivity of the ellipsoid layer on optical coherence tomography. [J Pediatr Ophthalmol Strabismus. 2019;56:e5-e7.].

Otoplastia Combinada / Combined Otoplasty

Introdução: Orelha em abano é a deformidade congênita mais comum de cabeça e pescoço, cuja transmissão se dá por herança autossômica dominante, sem predileção por gênero. A orelha proeminente ou "em abano" ocorre quando há um excesso ou hipertrofia da concha auricular, apagamento da antélice, um ângulo escafoconchal maior que 90º ou uma combinação destes, ocorrendo uni ou bilateralmente. O objetivo é apresentar uma abordagem conservadora para correção de orelha em abano, com a associação de técnicas. Métodos: Foi utilizada uma variação cirúrgica para realização de otoplastia com o auxílio de uma abordagem anterior para ressecção da concha auricular associada ao enfraquecimento da antélice com incisões parciais na cartilagem também por via anterior e a realização de pontos de Mustardé por via posterior para melhor definição da antélice, sem a fixação da concha à mastoide. Foram operados 200 pacientes com idade média de 17 anos, entre janeiro de 1987 e janeiro de 2015, sendo 60% do gênero feminino. Resultados: Dos 200 pacientes, apenas 24 necessitaram revisões cirúrgicas discretas. Conclusão: O procedimento cirúrgico é simples, facilmente reprodutível, proporcionando bons resultados, com alto grau de satisfação e baixo índice de complicações/morbidade.

Introduction: Protruding ear is the most common congenital deformity of the head and neck, with an autosomal dominant inheritance and no predilection for sex. Protruding ear or prominent ear occurs when there is concha excess or hypertrophy, erasure of the antihelix, a scapho-conchal angle greater than 90°, or a combination of these factors, occurring unior bilaterally. The objective is to present a conservative approach to correct protruding ear, with a combination of techniques. Methods: The otoplasty surgical technique involved an anterior approach for resection of the auricular concha, which was associated with weakening of the antihelix, and partial incisions of the cartilage were performed through anterior access and of Mustardé sutures, through posterior access for better definition of the antihelix without fixation of the concha to the mastoid. Two hundred patients with a mean age of 17 years underwent operations between January 1987 and January 2015, 60% of whom were female. Results: Of the 200 patients, only 24 patients needed discrete surgical revisions. Conclusion: The surgical procedure is simple, easily reproducible, provides good results, and is associated with a high degree of satisfaction and a low rate of complications/morbidities.

Upper limb congenital muscular hypertrophy and aberrant muscle syndrome in children.

Congenital muscle hypertrophy of the upper limb is a very rare condition with unknown aetiology. This descriptive observational and retrospective series included eight children followed by a multidisciplinary team from 2005 to 2017. The diagnosis was based on a cluster of clinical and radiological characteristics after elimination of differential diagnoses. Patients were categorized according to: anomalies of the wrist, anomalies of long fingers of intrinsic or extrinsic origin; and anomalies of the thumb with or without first web space contracture. Treatment begins in young children with hand orthoses to limit muscle contraction and joint malposition. The purpose of surgical treatment was to release contractures and to restore muscle balance through, in the main, finger intrinsic releases and first web releases. At the 2-year follow-up, we found that limited surgical procedures improved finger, thumb and wrist positions. We conclude that muscle hypertrophy is the main cause of deformity and that selective releases of contracted musculo-tendinous units and skin lengthening are effective. LEVEL OF EVIDENCE: IV.

Peripheral Pigmented Retinal Lesions in Stargardt Disease.

PURPOSE: To investigate the prevalence of peripheral pigmented retinal lesions and associated clinical findings in patients with Stargardt disease. DESIGN: Retrospective case series. METHODS: Records at a single academic institution were reviewed for patients with genetically confirmed Stargardt disease with peripheral pigmented retinal lesions on wide-field retinal imaging. For this cohort we described demographics, clinical features, and pathogenic variants. RESULTS: Out of 62 patients with Stargardt disease and wide-field retinal imaging, 14 had peripheral pigmented retinal lesions. These flat, subretinal lesions were located in the mid or far periphery and had well-defined borders, resembling congenital hypertrophy of retinal pigment epithelium (CHRPE) lesions. For this group of 14 patients, median age at initial diagnosis of Stargardt disease was 9.5 years, and the median duration of disease was 21.5 years. Median Snellen visual acuity was 20/200, and median central scotoma size was 20.0 degrees. All 14 patients had electroretinographic abnormalities. Four out of 14 patients developed new lesions during clinical follow-up. CONCLUSIONS: Wide-field retinal imaging revealed the presence of peripheral pigmented retinal lesions resembling CHRPE lesions in a subset of patients with genetically confirmed Stargardt disease. Presence of these lesions may be associated with severe phenotypes of the disease.