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Purpose:
Clarify the differences between Familial Adenomatous Polyposis (FAP)-associated Congenital Hypertrophy of the Retinal Epithelium (CHRPE) and benign variants with regards to lesion characteristics and associated risk.
Observations:
An eighteen-year-old man with no past medical history was found to have multiple lesions in both eyes that...
Context in source publication
Context 1
... eighteen-year-old man was seen by his optometrist for an annual eye exam. The optometrist noted several 1-2 mm pisiform (peapodshaped) or fusiform lesions in multiple quadrants of the right eye, with additional small pigmented punctate lesions ( Figs. 1 and 2). The left eye had similar findings (Figs. 3 and 4). ...
Citations
... Konjenital ve iyi huyludurlar ve ilişkili herhangi bir sistemik koşul yoktur. 11 ...
The iris, ciliary body and retinal pigment epithelium (RPE) can undergo reactive hyperplasia, but true neoplasms of the retinal pigment epithelium are rare. RPE tumors can be benign or malignant. Even malignant variants rarely metastasize locally or distantly. Recognition of RPE tumors is important as they can be clinically confused with uveal melanomas and the prognosis and treatment of these two conditions are completely different. They can be distinguished from melanoma by their clinical, imaging and cytopathological features. While observation is usually sufficient in small and asymptomatic RPE tumors, more aggressive treatments (vitreoretinal surgery, plaque radiotherapy, etc.) may be required depending on the conditions they rarely cause. In this review, it is aimed to convey current literature information under 8 sub-titles by quoting references from relatively new diagnostic tests and researches on the subject.
... 6 Bear tracks: also known as grouped pigmentation of the retina, bear tracks are flat, well-demarcated, hyperpigmented lesions in the retinal pigment epithelium (RPE) and are a subgroup of congenital hypertrophy of the RPE (CHRPE). 7 CHRPE can be associated with familial adenomatous polyposis if bilateral, occurs in multiple quadrants, has a pisciform shape, and irregular borders. 7 3 Birdshot chorioretinopathy: a rare autoimmune posterior uveitis with poorly understood pathogenesis 8 characterized by multiple lightly colored oval choroid lesions (the long axis is radial to the optic disc) with a juxtopapillary predilection. ...
... 7 CHRPE can be associated with familial adenomatous polyposis if bilateral, occurs in multiple quadrants, has a pisciform shape, and irregular borders. 7 3 Birdshot chorioretinopathy: a rare autoimmune posterior uveitis with poorly understood pathogenesis 8 characterized by multiple lightly colored oval choroid lesions (the long axis is radial to the optic disc) with a juxtopapillary predilection. 9 Presentation is most commonly bilateral and symmetric. ...
There are many eponyms derived from the animal world that help describe what is observed during an ophthalmological examination. These zoologically-based eponyms tell a story between the animal kingdom and the human eye. Medical nomenclature could be described as suffering from eponymophilia. Eponymous descriptions are ubiquitous in the field of medicine as seen in text in these fields: dermatology, neurology,and trichology. Eponyms, however practical, are profoundly affected by local geography and culture, which can contribute to confusion and misunderstanding, particularly amongst practitioners from different cultures and locations.
Deriving meaning from eponyms often necessitates ethnocentric or linguistically exclusive knowledge. While the debate surrounding whether to continue the use of eponyms in medicine roars on, to the authors’ knowledge, a review of animal eponyms used in ophthalmology has been limited, as such, this manuscript will review animal eponyms encountered in ophthalmology and optometry with the aim to clarify meaning and provide a useful reference for practicing and trainee eye physicians.
As this work was undertaken to review commonly encountered conditions, no detailed pathophysiology will be described as it is beyond the scope of this article. Of note, not all eponyms reviewed are based on physical appearances (e.g. chicken eyes).
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... It is important to differentiate TM lesions especially those lying outside the macula from other RPE lesions and congenital hypertrophy of the RPE (CHRPE). CHRPE is classically either nonpigmented or pigmented lesion and frequently located in the mid-peripheral fundus [22]. Additionally, CHRPE lesions can be associated with familial adenomatous polyposis and in this situation, these lesions tend to be bilateral, occur in multiple quadrants, have a pisiform shape with irregular margins [23]. ...
Purpose:
To assess clinical characteristics of torpedo maculopathy (TM) lesions in an infant population with age ≤1.5 years and to investigate the role of NEXMIF mutation in the development of TM.
Methods:
Retrospective analysis of medical records of 17 consecutive infants with the diagnosis of TM between 2016 January and 2019 December were done. Fundus images and a hand-held spectral-domain optical coherence tomography (Envisu 2300, Bioptigen, Morrisville, NC, USA) were used to identify clinical characteristics of TM lesions. Additional molecular testing for mutation screening for NEXMIF gene was also carried out.
Results:
Totally 55334 infants were screened during the study period and 17 (0.03%) were identified as having TM. The mean age at the time of diagnosis was 3.94±5.08 months. All TM lesions showed variable degrees of hypopigmentation. Satellite lesion in one infant was nasally located to the main TM lesion. Absence, disruption, loss, degeneration and/or irregularity of the ellipsoid zone were common findings on OCT examination. No pathogenic or likely pathogenic variant of NEXMIF gene was detected.
Conclusion:
Fundoscopic appearance and OCT findings of lesions show similarities to those already reported previously. Contrary to popular belief, a nasally located satellite lesion was observed in one of our case.
This chapter offers an extensive analysis of Crohn's disease, ulcerative colitis, familial adenomatous polyposis, and Wilson’s disease. There were described in detail highlighting their distinct pathologies and clinical features while acknowledging their significant overlap. It navigates through the multifaceted etiology of these diseases, ranging from genetic predispositions to environmental influences like smoking and dietary factors. Complications, including extraintestinal manifestations and diagnostic challenges, are meticulously examined alongside therapeutic strategies encompassing corticosteroids, immunosuppressants, antibiotics, and innovative biological therapies. Through an integrated approach merging intestinal insights with ocular manifestations, this chapter provides a comprehensive understanding of gastroenterological diseases, offering valuable perspectives for clinicians and researchers alike.
Introduction
Gardner Syndrome (GS) is a variant of Familial Adenomatous Polyposis (FAP). FAP is characterized by several precancerous adenomatous intestinal polyps while GS has additional distinct extraintestinal features such as congenital hypertrophy of retinal epithelium (CHRPE), which we describe here.
Presentation of case
42-year-old male with GS presenting with flashes and floaters observed to have CHRPE-like lesions characteristic of GS.
Discussion
Subtle CHRPE findings differentiate pathological, described in the present case, from non-pathological etiologies and may guide further management.
Conclusion
Here we present the signs and symptoms that raise suspicion for GS associated with CHRPE and how to approach management late in the disease presentation.
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.
Purpose of review:
To illustrate retinal pigment epithelium hamartomas (RPEHs) in a patient with known Turcot syndrome and to demonstrate the significance of these lesions in other colonic polyposis syndromes.
Recent findings:
The presence of multiple, bilateral RPEHs is a specific marker for familial adenomatous polyposis (FAP). Recent studies have noted RPEHs in associated syndromes including Gardner and Turcot syndromes. Herein, we illustrate an 18-year-old male patient with known brain medulloblastoma who was documented 7 years later to have asymptomatic RPEHs in both eyes, demonstrating hypo-autofluorescence.
Summary:
This patient with previous medulloblastoma and known Turcot syndrome was later found to have typical RPEHs, a feature that is important in family screening. Confirmation of RPEHs related to Turcot syndrome was made, and genetic evaluation confirmed germline mutation in the adenomatous polyposis coli (APC) gene. Observation was advised. Due to the fairly rapid progression to colorectal cancer if untreated, ophthalmologists should be aware that RPEHs can be the first extracolonic manifestation of FAP, Gardner syndrome, and Turcot syndrome.
Autopsy is often the only way of obtaining material for histological study from conditions such as age-related macular degeneration or various retinopathies. It is also a valuable source that allows the study of the eye in various systemic or multisystem diseases. If systemic hypertension is uncontrolled this leads to retinal vascular ischaemia usually by way of microinfarcts. Fibrinoid necrosis may be seen in choroidal vessels. Sclerokeratitis may be seen in rheumatoid arthritis, various vasculitides and other autoimmune diseases such as systemic lupus erythematosus. Deposits of leukaemia and lymphoma are usually seen in the choroid and haemorrhages may also occur. Retinitis pigmentosa is frequently only studied at the late stage where there is bone spicule pigmentation with sparing of the macular region. A common feature in syndromic retinal degeneration appears to be abnormalities in the cilia. Metabolic deficiencies may also affect the eye. These include lysosomal storage disorders, peroxisomal storage disorders, lipofuscinosis and aminoacidopathies. Mitochondrial disorders also occur. The effects of demyelinating disease such as multiple sclerosis may also be seen in the eye.
