Pigmented Ocular Fundus Lesions Associated With Familial Adenomatous Polyposis

Li, Chris J; Yaghy, Antonio; Shields, Carol L.

doi:10.3928/23258160-20200129-10

“…Further studies are needed to elucidate this possible association. Interestingly, in the ocular region APC gene mutations have been associated with pigmented ocular fundus lesions [ 18 , 19 ]. Remarkably, previous genetic studies found an association between BFH and PTCH1 gene mutations, which is a gene that normally encodes the patched-1 protein that acts as the receptor for the Sonic Hedgehog (SHH) protein [ 1 , 20 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

Basaloid Follicular Hamartoma of the Eyelid: A Case Report and Literature Review about an Unusual Lesion in the Ocular Region

Lamas

¹

,

Rodrigues

²

,

Araújo

³

et al. 2022

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Basaloid follicular hamartoma (BFH) is a normally benign, uncommon, malformative lesion involving the hair follicles, which usually poses challenges in the differential diagnosis with other benign and malignant tumours, especially basal cell carcinoma, due to significant clinical and morphological overlap. Here, we report the case of a 53-year-old male who presented with a mass in the upper left eyelid evolving for one year. The patient had a previous history of total colectomy and an abdominal desmoid tumour within the context of Familial Adenomatous Polyposis (FAP), with a documented germline mutation in the Adenomatous Polyposis Coli (APC) gene. The eyelid lesion was biopsied and the histological analysis of the three small tissue fragments received revealed fragments with cutaneous–conjunctival lining displaying a subepithelial proliferation of basaloid nests with peripheral palisading, compatible with primitive hair follicles. There were images of anastomosis between different basaloid nests, which had their connection to the epithelial lining preserved. The stroma had high cellularity and sometimes primitive mesenchymal papillae were evident. Pleomorphism was absent, mitotic figures were barely identified, and no necrosis was seen. The basaloid nests did not have epithelial–stromal retraction nor mucin deposits. A diagnosis of BFH was proposed, which was later confirmed after surgical excision of the whole eyelid lesion. No evidence of carcinoma was present. This case illustrates the main features of the rare benign eyelid BFH. The standard medical or surgical approach of these lesions remains to be firmly established. Nearly nine months after surgical excision our patient remains well without signs of disease recurrence.

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“…However, the curative effect of laser treatment alone is gradually reduced with time and is difficult to last, so it is of great significance to explore treatment methods with strong and lasting effect. Studies have found that triamcinolone acetonide, as a glucocorticoid, reduces extracellular fluid exudation and inhibits fibroblast proliferation, thereby controlling and alleviating intraocular inflammation in patients [ 20 – 22 ]. Foreign scholars believe that intravitreous injection of triamcinolone acetonide can maintain a high concentration of the drug in the eye for a long time, which is conducive to the exertion of drug efficacy, effectively inhibit the formation of retinal, choroidal, and iris neovascularization, and also be used to treat macular edema caused by various causes [ 23 , 24 ].…”

Section: Discussionmentioning

confidence: 99%

Macular Edema and Visual Acuity Observation after Cataract Surgery in Patients with Diabetic Retinopathy

Song

¹

,

Jiang

²

,

Wang

³

2022

Journal of Healthcare Engineering

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Objective. The purpose was to explore the effect of cataract surgery on postoperative macular edema and visual acuity in patients with diabetic retinopathy. Methods. 88 patients with diabetic retinopathy treated in our hospital (December 2019–December 2020) were chosen as research subjects and divided into experimental group of 44 patients (52 eyes) and control group of 44 patients (54 eyes) according to the odd and even admission numbers. The control group received laser photocoagulation treatment, while the experimental group underwent cataract surgery. The central macular thickness (CMT) and visual acuity of the two groups after treatment were detected to evaluate the therapeutic effect of different treatment methods on diabetic retinopathy. Results. No obvious differences in sex ratio, average age, average course of disease, average weight, average BMI, average glycosylated hemoglobin, and residence were found between the two groups P > 0.05 . The total clinical effective rate in the experimental group was obviously higher compared with the control group P < 0.05 . The CMT at T1, T2, and T3 in the experimental group was obviously lower compared with the control group P < 0.05 . The BCVA in the experimental group at 1 month and 3 months after treatment was obviously higher compared with the control group P < 0.05 . The VEGF levels of both groups after treatment were obviously lower P < 0.001 , and the VEGF level in the experimental group after treatment was obviously lower compared with the control group P < 0.001 . The total incidence of complications in the experimental group was obviously lower compared with the control group P < 0.05 . Conclusion. Cataract surgery is a reliable method to improve visual acuity and reduce serum inflammatory indicators in patients with diabetic retinopathy, with better clinical effect than laser photocoagulation, which is recommended for the treatment of diabetic retinopathy.

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“…The appearance of RPEHs in FAP is well documented [12][13][14][15] and has been shown to be present in 60-85% of patients with FAP [3,4]. RPEHs are thought to be congenital, relating to the length of the truncated APC protein product [8].…”

Section: Retinal Pigment Epithelium Hamartomas In Familial Adenomatou...mentioning

confidence: 99%

“…In families with FAP without the ocular trait, negative ophthalmic examination does not indicate absence of the disease. The use of autofluorescence could be helpful in identifying hidden RPEHs [15]. In RPEH-positive families, ophthalmic examination with DNA analysis and endoscopy has been shown to enhance risk assessment in family members who are carriers [31].…”

Section: Case Reportmentioning

confidence: 99%

Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome

Mokhashi

¹

,

Cai

²

,

Shields

³

et al. 2021

Current Opinion in Ophthalmology

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Purpose of reviewTo 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 findingsThe 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. SummaryThis 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.

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Pigmented Ocular Fundus Lesions Associated With Familial Adenomatous Polyposis

Cited by 4 publications

References 0 publications

Basaloid Follicular Hamartoma of the Eyelid: A Case Report and Literature Review about an Unusual Lesion in the Ocular Region

Basaloid Follicular Hamartoma of the Eyelid: A Case Report and Literature Review about an Unusual Lesion in the Ocular Region

Macular Edema and Visual Acuity Observation after Cataract Surgery in Patients with Diabetic Retinopathy

Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome

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