Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report
Abstract Introduction PITX3 has been reported to be associated with congenital cataracts, anterior segment mesenchymal dysgenesis, Peters’ anomaly, and microphthalmia. In this case, an infant with unilateral buphthalmos, corneal staphyloma and corneal fistula carrying a variant in PITX3 was reported...
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| Format: | Article |
| Language: | English |
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BMC
2022-09-01
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| Series: | BMC Ophthalmology |
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| Online Access: | https://doi.org/10.1186/s12886-022-02573-x |
| _version_ | 1811258884697882624 |
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| author | Lin Zhou Zhike Xu Qianying Wu Xin Wei |
| author_facet | Lin Zhou Zhike Xu Qianying Wu Xin Wei |
| author_sort | Lin Zhou |
| collection | DOAJ |
| description | Abstract Introduction PITX3 has been reported to be associated with congenital cataracts, anterior segment mesenchymal dysgenesis, Peters’ anomaly, and microphthalmia. In this case, an infant with unilateral buphthalmos, corneal staphyloma and corneal fistula carrying a variant in PITX3 was reported. Case description We describe a 4-month-old female infant who was referred to our Eye Clinic because of gradual enlargement of the eyeball in the right eye and whitish opacity in both eyes. Buphthalmos with long axial length (22.04 mm), macrocornea with diffuse corneal oedema and opacity (14.50 mm*14.50 mm) and high intraocular pressure (23.78 mmHg) were detected in the right eye. Microphthalmia with short axial length (16.23 mm), microcornea with diffuse corneal oedema and opacity (7.50 mm*6.50 mm) were detected in the left eye. A 360° trabeculotomy was performed for the right eye. However, corneal staphyloma and corneal fistula in the right eye were detected 6 months after the surgery. A variant in exon 4 of PITX3 (c.640_656dup (p. Gly220Profs*95)) was identified in the proband but was not detected in her healthy parents. Conclusion A novel phenotype characterized by unilateral buphthalmos, corneal staphyloma and corneal fistula in an infant were reported to be associated with PITX3 in our study. Our study expands the scope of the clinical heterogeneity of PITX3 variants. It also improves our understanding and increases the attention given to patients with PITX3 variants. |
| first_indexed | 2024-04-12T18:22:10Z |
| format | Article |
| id | doaj.art-f227ef24890d4991b26cdee4193caae9 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-04-12T18:22:10Z |
| publishDate | 2022-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-f227ef24890d4991b26cdee4193caae92022-12-22T03:21:25ZengBMCBMC Ophthalmology1471-24152022-09-0122111110.1186/s12886-022-02573-xUnilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case reportLin Zhou0Zhike Xu1Qianying Wu2Xin Wei3Department of ophthalmology, West China Hospital, Sichuan UniversityDepartment of ophthalmology, The people’s hospital of LeshanDepartment of ophthalmology, West China Hospital, Sichuan UniversityDepartment of ophthalmology, West China Hospital, Sichuan UniversityAbstract Introduction PITX3 has been reported to be associated with congenital cataracts, anterior segment mesenchymal dysgenesis, Peters’ anomaly, and microphthalmia. In this case, an infant with unilateral buphthalmos, corneal staphyloma and corneal fistula carrying a variant in PITX3 was reported. Case description We describe a 4-month-old female infant who was referred to our Eye Clinic because of gradual enlargement of the eyeball in the right eye and whitish opacity in both eyes. Buphthalmos with long axial length (22.04 mm), macrocornea with diffuse corneal oedema and opacity (14.50 mm*14.50 mm) and high intraocular pressure (23.78 mmHg) were detected in the right eye. Microphthalmia with short axial length (16.23 mm), microcornea with diffuse corneal oedema and opacity (7.50 mm*6.50 mm) were detected in the left eye. A 360° trabeculotomy was performed for the right eye. However, corneal staphyloma and corneal fistula in the right eye were detected 6 months after the surgery. A variant in exon 4 of PITX3 (c.640_656dup (p. Gly220Profs*95)) was identified in the proband but was not detected in her healthy parents. Conclusion A novel phenotype characterized by unilateral buphthalmos, corneal staphyloma and corneal fistula in an infant were reported to be associated with PITX3 in our study. Our study expands the scope of the clinical heterogeneity of PITX3 variants. It also improves our understanding and increases the attention given to patients with PITX3 variants.https://doi.org/10.1186/s12886-022-02573-xPITX3VariantUnilateral buphthalmosCorneal staphylomaCorneal fistula |
| spellingShingle | Lin Zhou Zhike Xu Qianying Wu Xin Wei Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report BMC Ophthalmology PITX3 Variant Unilateral buphthalmos Corneal staphyloma Corneal fistula |
| title | Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report |
| title_full | Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report |
| title_fullStr | Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report |
| title_full_unstemmed | Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report |
| title_short | Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report |
| title_sort | unilateral buphthalmos corneal staphyloma and corneal fistula caused by pathogenic variant in the pitx3 gene a case report |
| topic | PITX3 Variant Unilateral buphthalmos Corneal staphyloma Corneal fistula |
| url | https://doi.org/10.1186/s12886-022-02573-x |
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