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Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.
Shi, Jie; Sun, Tengyang; Xu, Ke; Zhang, Xin; Li, Yang.
Afiliación
  • Shi J; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Hougou Lane 17, Chong Nei Street, Beijing, 100730, China.
  • Sun T; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Hougou Lane 17, Chong Nei Street, Beijing, 100730, China.
  • Xu K; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Hougou Lane 17, Chong Nei Street, Beijing, 100730, China.
  • Zhang X; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Hougou Lane 17, Chong Nei Street, Beijing, 100730, China.
  • Li Y; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Hougou Lane 17, Chong Nei Street, Beijing, 100730, China. yilbio@163.com.
BMC Ophthalmol ; 23(1): 165, 2023 Apr 19.
Article en En | MEDLINE | ID: mdl-37076855
BACKGROUND: Best vitelliform macular dystrophy (BVMD), caused by pathogenic variants of the BEST1 gene, has not been reported in association with cataracts and ocular malformations. We reported a case with a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy. CASE PRESENTATION: A six-year-old girl manifested photophobia and a poor visual behavior. A thorough ophthalmic examination revealed the patient to have bilateral microphthalmia, microcornea, congenital cataract, and Best vitelliform macular dystrophy (BVMD). Whole exome sequencing (WES) identified one variant in the BEST1 and one variant in CRYBB2 genes: c.218 T > G p.(Ile73Arg) and c.479G > C p.(Arg160Pro). The first variant was inherited from the proband's father, who was diagnosed with subclinical BVMD, while the second was a de novo variant. A minigene assay showed that c.218 T > G in BEST1 did not affect pre-mRNA splicing. CONCLUSIONS: This case suggests that the complex ocular phenotype comprising BVMD and congenital cataract with microphthalmia cannot be explained by variation in one gene but is caused by variants in BEST1 and CRYBB2. This case highlights the importance of general clinical evaluation and comprehensive genetic testing for diagnosing complex eye diseases.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Anomalías del Ojo / Microftalmía / Enfermedades de la Córnea / Distrofia Macular Viteliforme Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: BMC Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Catarata / Anomalías del Ojo / Microftalmía / Enfermedades de la Córnea / Distrofia Macular Viteliforme Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: BMC Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido