Identification of a Novel Mutation in the PTCH Gene in a Patient with Gorlin-Goltz Syndrome with Unusual Ocular Disorders

Romano, Mercedes; Iacovello, Daniela; Cascone, Nikhil; Contestabile, Maria Teresa

doi:10.5301/ejo.2010.6186

Cited by 9 publications

(6 citation statements)

References 6 publications

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“… 23 Though there is no definitive proof that Gorlin syndrome is the cause of these findings, the vitreous may be selectively affected in NBCCS due to the mesodermal origin and large proportion of collagen. 23 More recently, cases of bilateral epiretinal membranes, 24 bilateral macular holes, 25 and a combined hamartoma of the retina and retinal pigment epithelium (RPE) 26 in patients with NBCCS have been published. Mouse models of patched gene (PTCH) knockouts show photoreceptor dysplasia and secondary Muller cell-derived gliosis, 27 possibly explaining the link between the pathogenesis of Gorlin syndrome and these aberrant retinal findings.…”

Section: Ophthalmologic Findingsmentioning

confidence: 99%

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

Chen

Sartori²,

Aakalu

et al. 2015

Middle East Afr J Ophthalmol

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Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. Myriad ophthalmologic findings are associated with NBCCS, including periocular BCCs, hypertelorism, strabismus, myelinated nerve fibers, and disorders of the retina and retinal pigment epithelium. We performed a literature search in PubMed for articles on the ophthalmologic manifestations of Gorlin syndrome, published between 1984 and 2014. Of 33 papers, 31 were included. Although Gorlin syndrome is due to mutations in a single gene, it displays variable phenotypic expressivity. Therefore, familiarity with this disorder across clinical specialties is necessary to avoid misdiagnosis. The ophthalmologist should be included in the multidisciplinary team for the management of Gorlin syndrome in order to prevent visual loss and improve the quality of life of these patients.

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Section: Ophthalmologic Findingsmentioning

confidence: 99%

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

Chen

Sartori²,

Aakalu

et al. 2015

Middle East Afr J Ophthalmol

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“…[21][22][23] In this research, the analysis of VEP demonstrated an increase in latency as well as a reduction in amplitude in the observed patient, indicative of a qualitative and quantitative disorder of the optic pathway conduction (Figure 2). 19,24 The significant results, throughout all frequencies of spatial stimulation, suggest a dysfunction of the macular pathway in NBCCS patients compared to the CG.…”

Section: Discussionmentioning

confidence: 95%

“…25,26 Interestingly, the amplitude reduction and the significant increase of the latency in NBCCS group in the transmission time of the optical impulse may correlate to a subclinical myelin alteration in NBCCS. 14,19 Besides, we know that from a genetic point of view the activation of the SHH pathway is required for the development of the visual system. In fact, SHH expression is required for the induction of the optic nerve as well as photoreceptor differentiation.…”

Section: Discussionmentioning

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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“…PTCH1 / 2 mutations that have been identified in both BCN syndrome and HPE are usually missense variants and dominant, implying that additional haploinsufficiency also would be embryonic lethal in humans. A truncating, dominant germline mutation in PTCH1 was identified in one BCN syndrome patient with myelinated fibers and optic nerve anomalies in one eye and epiretinal membranes in both (Romano et al 2011). Another patient with a truncating PTCH1 mutation was reported with both BCN syndrome and unilateral microphthalmia with cyst (Ragge et al 2005b).…”

Section: Hedgehog Signaling In Early Brain and Ocular Pathogenesismentioning

confidence: 99%

The hedgehog pathway and ocular developmental anomalies

2018

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Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia, not always compatible with postnatal life, to subtle but damaging functional effects on specific eye components. This review will concentrate on the effects and effectors of the major vertebrate hedgehog ligand for eye and brain formation, Sonic hedgehog (SHH), in tissues that constitute the eye directly and also in those tissues that exert indirect influence on eye formation. After a brief overview of human eye development, the many roles of the SHH signaling pathway during both early and later morphogenetic processes in the brain and then eye and periocular primordia will be evoked. Some of the unique molecular biology of this pathway in vertebrates, particularly ciliary signal transduction, will also be broached within this developmental cellular context.

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Identification of a Novel Mutation in the PTCH Gene in a Patient with Gorlin-Goltz Syndrome with Unusual Ocular Disorders

Abstract: A novel nonsense mutation in the PTCH gene was found. We report the occurrence of epiretinal membranes and the persistence of myelinated nerve fibers. Electrophysiologic and visual field alterations, supporting a neuroretinal dysfunction, were also documented.

Cited by 9 publications

References 6 publications

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

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

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

The hedgehog pathway and ocular developmental anomalies

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