Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature
Abstract Background Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2024-04-01
|
| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-024-03418-5 |
| _version_ | 1797219910592495616 |
|---|---|
| author | Tulin Aras Ogreden Gürkan Erdoğan |
| author_facet | Tulin Aras Ogreden Gürkan Erdoğan |
| author_sort | Tulin Aras Ogreden |
| collection | DOAJ |
| description | Abstract Background Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment. Case presentation Both cases exhibited high myopia and various degrees of occipital skull defect. The first case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second case, who presented with late-stage unilateral retinal detachment and pre-phthisis. Conclusions The report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO. |
| first_indexed | 2024-04-24T12:41:09Z |
| format | Article |
| id | doaj.art-1569a012eb324411ac3473a6f36a5462 |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-04-24T12:41:09Z |
| publishDate | 2024-04-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-1569a012eb324411ac3473a6f36a54622024-04-07T11:12:13ZengBMCBMC Ophthalmology1471-24152024-04-012411610.1186/s12886-024-03418-5Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literatureTulin Aras Ogreden0Gürkan Erdoğan1Medipol University, Department of OphtalmologyIstanbul University Istanbul Faculty of MedicineAbstract Background Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment. Case presentation Both cases exhibited high myopia and various degrees of occipital skull defect. The first case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second case, who presented with late-stage unilateral retinal detachment and pre-phthisis. Conclusions The report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO.https://doi.org/10.1186/s12886-024-03418-5Knobloch syndromeCOL18A1 genePediatric retinal detachmentRetinal surgeryCase report |
| spellingShingle | Tulin Aras Ogreden Gürkan Erdoğan Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature BMC Ophthalmology Knobloch syndrome COL18A1 gene Pediatric retinal detachment Retinal surgery Case report |
| title | Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature |
| title_full | Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature |
| title_fullStr | Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature |
| title_full_unstemmed | Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature |
| title_short | Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature |
| title_sort | two patients with knobloch syndrome due to mutation in col8a1 gene case report and review of the literature |
| topic | Knobloch syndrome COL18A1 gene Pediatric retinal detachment Retinal surgery Case report |
| url | https://doi.org/10.1186/s12886-024-03418-5 |
| work_keys_str_mv | AT tulinarasogreden twopatientswithknoblochsyndromeduetomutationincol8a1genecasereportandreviewoftheliterature AT gurkanerdogan twopatientswithknoblochsyndromeduetomutationincol8a1genecasereportandreviewoftheliterature |