A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane
Abstract Purpose To report the first case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane in Chinese patient. Observations A 12-year-old female presented with bilateral visual decline. Examination revealed a porcelain-white optic nerve coloboma an...
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BMC
2025-07-01
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| Series: | BMC Ophthalmology |
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| Online Access: | https://doi.org/10.1186/s12886-025-04243-0 |
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| author | Bin Meng Min Cui Ang Ji |
| author_facet | Bin Meng Min Cui Ang Ji |
| author_sort | Bin Meng |
| collection | DOAJ |
| description | Abstract Purpose To report the first case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane in Chinese patient. Observations A 12-year-old female presented with bilateral visual decline. Examination revealed a porcelain-white optic nerve coloboma and epiretinal membrane in the right eye. OCT confirmed deepened optic disc excavation and a thin epiretinal membrane. Visual field testing showed an inferonasal arcuate scotoma. Systemic findings included odontogenic keratocyst and cutaneous basal cell carcinomas. Genetic testing identified a heterozygous PTCH1 mutation. Conclusions and importance Optic nerve coloboma and epiretinal membrane, though rare, can be initial signs of nevoid basal cell carcinoma syndrome. Ophthalmologists are critical in identifying these manifestations, enabling early diagnosis and comprehensive management. |
| format | Article |
| id | doaj-art-b4cab0c084eb46b0be070aec00eb778b |
| institution | Kabale University |
| issn | 1471-2415 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj-art-b4cab0c084eb46b0be070aec00eb778b2025-08-20T03:42:35ZengBMCBMC Ophthalmology1471-24152025-07-012511810.1186/s12886-025-04243-0A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membraneBin Meng0Min Cui1Ang Ji2Department of Ophthalmology, Beijing Haidian Hospital (Haidian Section of Peking University Third Hospital)Department of Ophthalmology, Beijing Haidian Hospital (Haidian Section of Peking University Third Hospital)Department of Ophthalmology, Beijing Haidian Hospital (Haidian Section of Peking University Third Hospital)Abstract Purpose To report the first case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane in Chinese patient. Observations A 12-year-old female presented with bilateral visual decline. Examination revealed a porcelain-white optic nerve coloboma and epiretinal membrane in the right eye. OCT confirmed deepened optic disc excavation and a thin epiretinal membrane. Visual field testing showed an inferonasal arcuate scotoma. Systemic findings included odontogenic keratocyst and cutaneous basal cell carcinomas. Genetic testing identified a heterozygous PTCH1 mutation. Conclusions and importance Optic nerve coloboma and epiretinal membrane, though rare, can be initial signs of nevoid basal cell carcinoma syndrome. Ophthalmologists are critical in identifying these manifestations, enabling early diagnosis and comprehensive management.https://doi.org/10.1186/s12886-025-04243-0Nevoid basal cell carcinoma syndromeOptic nerve colobomaEpiretinal membraneCase report |
| spellingShingle | Bin Meng Min Cui Ang Ji A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane BMC Ophthalmology Nevoid basal cell carcinoma syndrome Optic nerve coloboma Epiretinal membrane Case report |
| title | A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane |
| title_full | A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane |
| title_fullStr | A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane |
| title_full_unstemmed | A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane |
| title_short | A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane |
| title_sort | case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane |
| topic | Nevoid basal cell carcinoma syndrome Optic nerve coloboma Epiretinal membrane Case report |
| url | https://doi.org/10.1186/s12886-025-04243-0 |
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