An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.
*Abnormalities, Multiple ; Adolescent ; Anterior Eye Segment/abnormalities ; Choroid/*abnormalities ; Coloboma/*diagnosis ; Corneal Opacity/*diagnosis ; Diagnosis, Differential ; Eye Abnormalities/*diagnosis ; Humans ; Male ; Microscopy, Acoustic ; Optic Nerve/abnormalities ; Retina/*abnormalities

An 18-year-old man presented with poor vision in both eyes that had been present since birth. Central corneal opacity and inferior peripheral sclerocornea with iridocorneal adhesion were observed upon anterior segment examination of the left eye. A coloboma of the iris was observed in the patient's right eye, which manifested as a small notch in the inferior pupillary margin and cataract. Fundus examination of the right eye showed a large inferior chorioretinal coloboma involving the optic disc and macula. It is essential to examine the fundus in detail, if possible, in cases of Peters' anomaly, because these patients may have congenital anomalies such as chorioretinal coloboma.
*Abnormalities, Multiple ; Adolescent ; Anterior Eye Segment/abnormalities ; Choroid/*abnormalities ; Coloboma/*diagnosis ; Corneal Opacity/*diagnosis ; Diagnosis, Differential ; Eye Abnormalities/*diagnosis ; Humans ; Male ; Microscopy, Acoustic ; Optic Nerve/abnormalities ; Retina/*abnormalities

No abstract available.
Child ; Cornea/*abnormalities ; Cysts/*diagnosis ; Eye Abnormalities/*diagnosis ; Eye Diseases/*diagnosis ; Female ; Humans ; Visual Acuity/physiology ; Vitreous Body/*pathology

Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated vertical deviation (DVD), and severe superior oblique overaction (SOOA). During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS.
*Abnormalities, Multiple ; Anterior Eye Segment/*abnormalities ; Child, Preschool ; Eye Abnormalities/*diagnosis/surgery ; Eye Movements ; Female ; Follow-Up Studies ; Humans ; Oculomotor Muscles/*abnormalities/surgery ; Ophthalmologic Surgical Procedures/*adverse effects ; Optic Nerve/abnormalities ; Postoperative Complications ; Sclera/*pathology/surgery ; Syndrome ; Tooth Abnormalities/*genetics

OBJECTIVETo explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS).

METHODThe clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed.

RESULTThe age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%).

CONCLUSIONJoubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Abnormalities, Multiple ; Cerebellar Diseases ; diagnosis ; physiopathology ; Cerebellum ; abnormalities ; Child ; Eye Abnormalities ; diagnosis ; physiopathology ; Female ; Humans ; Kidney Diseases, Cystic ; diagnosis ; physiopathology ; Male ; Retina ; abnormalities ; physiopathology

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.
Abnormalities, Multiple ; diagnosis ; genetics ; Cerebellum ; abnormalities ; Eye Abnormalities ; diagnosis ; genetics ; Humans ; Kidney Diseases, Cystic ; diagnosis ; genetics ; Membrane Proteins ; genetics ; Mutation ; Pedigree ; Retina ; abnormalities ; Whole Exome Sequencing

OBJECTIVE: To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome. METHODS: Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2. RESULTS: The proband of pedigree 1 was a fetus at 23⁺⁵ weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up. CONCLUSION The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.
Female ; Humans ; Pregnancy ; Pedigree ; Cerebellum/abnormalities* ; Abnormalities, Multiple/diagnosis* ; Eye Abnormalities/diagnosis* ; Kidney Diseases, Cystic/diagnosis* ; Phosphoric Monoester Hydrolases/genetics* ; Retina/abnormalities* ; East Asian People ; Mutation

We report a case of congenital lacrimal sac fistula located on the temporal side of the lateral canthus. A systemically healthy 1-year-old girl came to the outpatient clinic with a complaint of tearing on the temporal side of the right lateral canthus since birth. On examination, a small orifice was found in the skin on the temporal side of the lateral canthus. There was no evidence of inflammation or swelling within the opening. Surgeons carried out an operation under general anesthesia. They passed a probe through the lacrimal orifice and advanced it toward the lacrimal sac. Next, they introduced saline to the inferior punctum and found that it drained to the lateral fistula. The lower lid stretched as the dissected fistula was pulled. After the operation, the patient was free of the symptom. This paper is to report a case of congenital lacrimal sac fistula located on the temporal side of the lateral canthus.
Diagnosis, Differential ; *Eye Abnormalities ; Female ; Fistula/*congenital/diagnosis ; Humans ; Infant ; Lacrimal Apparatus/*abnormalities ; Lacrimal Apparatus Diseases/*congenital/diagnosis

We report two cases of mirror image anomalies in two different pairs of monozygotic twins. In case 1, the twins exhibited mirroring of strabismus and refractive errors. Twin 1 had 35 prism diopters (PD) right intermittent exotropia at distant fixation and myopic anisometropia that was spherical 2.00 diopters more myopic in the right eye. Twin 2 had 35 PD left intermittent exotropia at distant fixation and her left eye was more myopic by - spherical 1.00 diopters. In case 2, the twins were diagnosed with infantile nystagmus with upbeat jerk. Twin 1 exhibited a habitual head turn of 30degrees to the left with dampening of her nystagmus in dextroversion. Twin 2 also exhibited abnormal head position, but in his case the habitual turn was 30degrees to the right. We believe that this is the first report describing mirror imaged intermittent exotropia with anisometropia and infantile nystagmus with opposite abnormal head positions in pairs of monozygotic twins.
Child ; Eye Abnormalities/*diagnosis/genetics/surgery ; Eyeglasses ; Female ; Humans ; Male ; Twins, Monozygotic ; Visual Acuity

Infant hemangioma, the most common benign tumor in children, is characterized by rapid proliferation, followed by slower spontaneous involution. However, some patients with facial segmental hemangioma are associated with PHACE syndrome. PHACE syndrome is characterized by vascular nerve and vascular cutaneous lesions of multiple systemic systems, often resulting in structural and functional impairments. Recent studies have demonstrated that the possible pathogeneses of PHACE syndrome mainly include hypoxia, abnormality of mesodermal vascular endothelial cells, genetic abnormality, and abnormality of interstitial mesenchymal stem cells. The current medications for hemangioma with PHACE syndrome include beta blockers, glucocorticoids, and mTOR inhibitors. This review article mainly describes the pathogenesis, diagnoses and treatments of PHACE syndrome, in order to provide directions for diagnosis and treatment of this disorder.
Abnormalities, Multiple ; diagnosis ; etiology ; therapy ; Eye Abnormalities ; diagnosis ; etiology ; therapy ; Heart Defects, Congenital ; diagnosis ; etiology ; therapy ; Hemangioma ; diagnosis ; etiology ; therapy ; Humans ; Infant