Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.
BMC Ophthalmol
; 24(1): 149, 2024 Apr 04.
Article
en En
| MEDLINE
| ID: mdl-38575892
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Degeneración Retiniana
/
Desprendimiento de Retina
/
Encefalocele
Límite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
BMC Ophthalmol
Asunto de la revista:
OFTALMOLOGIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Reino Unido