Phenotype of congenital cataract accompanied with iris dysplasia / 中华实验眼科杂志

Background Certain relationship has been found between phenotype and genes mutation of congenital cataract.It is clear that different genetic mutations can cause the same complication in congenital cataract,meanwhile,different complications may be caused by the same gene mutation.However,their mechanism is still remained unclear.Objective This study was to observe the phenotype of congenital cataract accompanied with iris dysplasia.Methods Fifteen patients with congenital cataract accompanied with iris dysplasia were included in this study.The slit lamp,gonioscope and ophthalmoscope were used for the examination of the anterior ocular segment,the anterior chamber angle and fundus on all the patients.This study was approved by the Ethic Committee of Second People' s Hospital of Yunnan Province.Written informed consent was obtained from each patient or the custodian prior to any medical procedure.Results All the patients showed binocular involvement.Congenital nuclear cataract with whole coloboma of iris was seen in 7 cases,and 2 cases showed an entire cataract associated with incomplete coloboma of iris.Entire cataract with aniridia was diagnosed in 5 patients,and suture cataract complicated with aniridia was in 1 patient.Conclusions Some regular patterns can be implied between the morphological type of cataract and iris dysplasia,which may be helpful for further study of these diseases.

Congenital Optic Disc Coloboma Associated With Right Seventh and Eighth Cranial Nerve Palsy

PURPOSE: To report a case of bilateral congenital optic disc coloboma associated with the right seventh and eighth cranial nerve palsy. CASE SUMMARY: A female neonate with right facial palsy (seventh cranial nerve palsy) and right earlobe hypoplasia was referred for examination for retinopathy of prematurity (ROP). Bilateral optic disc coloboma and peripapillary choroidal defect was detected on the fundus examination and the anterior segment examination revealed no specific findings. On the otolaryngologic examination, laryngomalacia and floppy epiglottis were observed and left otitis media and mastoiditis were noted on the temporal bone computed tomography (CT). On the auditory brain stem response (ABR), right electro-potential was not detected and right cochlear nerve palsy (eighth cranial nerve palsy) was diagnosed. Further chromosomal analysis and brain magnetic resonance imaging (MRI) revealed no abnormal findings. However, on echocardiography, an atrial septal defect was detected and on upper gastrointestinal series, gastroesophageal reflux disease (GERD) was diagnosed. CONCLUSIONS: Congenital optic disc coloboma is frequently accompanied by other congenital deformities or abnormalities, and therefore, systemic examinations and tests to detect associated findings are required.

Chromosomal Translocation Occuring Congenital Coloboma in Both Eyes

The congenital coloboma represents failure in closure of fetal fissure, which may involve iris, ciliary body, choroid, retina or optic nerve. It is classified into typical and atypical type. The authors have experienced a case of typical coloboma of the occuring on the iris, choroid, and optic disc of both eyes which have chromosomal abnormality, 46, XY, t(4, 13)(p;q), and the literatures relating to this disease were briefly reviewed.

Chromosomal Translocation Occuring Congenital Coloboma in Both Eyes

The congenital coloboma represents failure in closure of fetal fissure, which may involve iris, ciliary body, choroid, retina or optic nerve. It is classified into typical and atypical type. The authors have experienced a case of typical coloboma of the occuring on the iris, choroid, and optic disc of both eyes which have chromosomal abnormality, 46, XY, t(4, 13)(p;q), and the literatures relating to this disease were briefly reviewed.

Three Cases of Typical Ocular Colobomas

Coloboma is a lacking of a portion of structure of the eye. Congenital colobomas are due to some interference with the normal closure of the emoryonic cleft, the aberration lying primarily in the epiblast of the cup and occur between the time of invagination of the vesicle and closure of the cleft. The authors have experienced 3 cases of the typical colobomas of iris, ciliary body, choroid, retina and optic nerve. Two of the cases had familial history. Extracapsular cataract extraction was performed in one eye of the case and resulted in slight improvement in vision.