Review of ocular manifestations of nevoid basal cell carcinoma syndrome: What an ophthalmologist needs to know

Chen, Judy J; Sartori, Juliana; Aakalu, Vinay K.; Setabutr, Pete

doi:10.4103/0974-9233.167815

Cited by 18 publications

(6 citation statements)

References 36 publications

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“…27 It has been demonstrated that the inactivation of the PATCH gene may be responsible for the development of fibroglial epiretinal membrane and abnormal ganglion-cell axon myelination. 18 This is also shown by the common recurrence in our NBCCS group of epiretinal membranes and myelinated fibers. PATCH deficient murine models showed dysplastic foci in the retina and abnormal gliotic response further confirming the key role of SHH/PATCHED in glial cells homeostasis.…”

Section: Discussionsupporting

confidence: 63%

“…14 Other common findings in NBCCS patients are hypertelorism, congenital cataract, strabismus, myelinated fibers, retinal hamartoma, optic nerve colobomas, nystagmus and palpebral ptosis. [15][16][17][18] The objective of the present study is to evaluate the integrity of the macular pathways and functionality in NBCCS patients by means of pattern reversal visual evoked potentials (pVEPs). The results obtained were compared with a control group (CG) of healthy subjects.…”

Section: Introductionmentioning

confidence: 99%

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Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients

Moramarco¹,

Alisi²,

Lambìase³

et al. 2021

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Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published. Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies. Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120ʹ), medium (60ʹ), and large (15ʹ) check size stimulation. Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations. Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.

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Section: Discussionsupporting

confidence: 63%

Section: Introductionmentioning

confidence: 99%

Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients

Moramarco¹,

Alisi²,

Lambìase³

et al. 2021

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“…NBCCS also predisposes some patients to various low-frequency tumors, such as ovarian fibroma, medulloblastoma, rhabdomyosarcomas, and cardiac fibromas ( 1 ). Ocular anomalies occur in some cases, including strabismus, congenital cataracts, eyelid cysts, myelinated nerve fibers, and pigmentary changes of the retinal epithelium ( 2 ). Multiple organ systems may be affected in NBCCS.…”

Section: Introductionmentioning

confidence: 99%

Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome

Lang,

Wang,

Guo

et al. 2024

Front. Med.

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A patient presenting with several basal cell carcinomas, pigmented nevi, and developmental defects was diagnosed with nevoid basal cell carcinoma syndrome. Gene panel sequencing and Sanger sequencing were used to identify a novel heterozygous frameshift mutation, c.1312dupA:p.Ser438Lysfs, in exon 9 of PTCH1. I-Tasser and PyMol analyses indicated that the mutated protein patched homolog 1 (PTCH1) lacked 12 transmembrane domains and the intracellular and extracellular rings of ECD2 compared with the wild-type protein, resulting in a remarkably different structure from that of the wild-type protein. This case extends our knowledge of the mutation spectrum of NBCCS.

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“…Basal Cell Carcinoma Syndrome is diagnosed with two major criteria or one major plus two minor criteria. The diagnostic criteria of this syndrome are summarized in Box 1 (10). Genetic counselling must be considered.…”

Section: Introductionmentioning

confidence: 99%

Nevoid Basal Cell Carcinoma Syndrome: A Case Report

Razavi

Shakibamehr

Khalesi

2016

Middle East J Rehabil Health

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Nevoid basal cell carcinoma syndrome (BCNS) is an autosomal dominant inherited disorder. Multiple organ systems may be affected in this syndrome including abnormalities of the skin, skeletal system, genitourinary system and central nevus system. In this report, we present a case of Nevoid basal cell carcinoma syndrome in a 26-year-old male patient. The patient had multiple odontogenic keratocyst in the posterior of mandible, syndactyly in both hand and bifid rib. After enucleation and curettage, he was followed for two years. A number of both clinical and radiological criteria are used to diagnose this syndrome. Basal cell carcinoma syndrome is diagnosed with two major criteria or one major and two minor criteria. We must suspect this disorder in young patients with multiple odontogenic keratocyst and dental abnormalities whether related or not with other clinical manifestations or familial history.

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Review of ocular manifestations of nevoid basal cell carcinoma syndrome: What an ophthalmologist needs to know

Cited by 18 publications

References 36 publications

Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients

Electrophysiological Study of Visual Pathways in Nevoid Basal Cell Carcinoma Syndrome Patients

Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome

Nevoid Basal Cell Carcinoma Syndrome: A Case Report

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