OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with microphthalmia. METHODS: Clinical data of the proband was collected. Whole exome sequencing (WES) was carried out to screen potential pathogenic variants in the proband. Candidate variant was verified by Sanger sequencing of the proband and his family members. Pathogenicity of the variant was predicted by searching the PubMed database and bioinformatic analysis. Sanger sequencing of amniotic fluid sample was carried out for prenatal diagnosis. RESULTS: The proband and his father were found to harbor a heterozygous c.151C>G (p.R51G) variant of the MAB21L2 gene. The same variant was not found in his mother and grandparents. Based on the guidelines of American College of Medical Genetics, the c.151C>G (p.R51G) variant was predicted as likely pathogenic. CONCLUSION The c.151C>G (p.R51G) variant of the MAB21L2 gene probably underlay the microphthalmia in the proband. Above finding has facilitated prenatal diagnosis for this pedigree.
China ; Coloboma ; Eye Proteins ; Female ; Humans ; Intracellular Signaling Peptides and Proteins ; Microphthalmos/genetics* ; Mutation ; Osteochondrodysplasias ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To analyze clinical features and genetic cause for a Chinese pedigree affected with microphthalmia. METHODS: The proband and his parents were subjected to whole exome sequencing (WES) to identify potential pathogenic variants. Sanger sequencing was carried out to confirm the result of WES in available members from the pedigree. Prenatal diagnosis was provided to the proband's mother by genetic testing of amnionic DNA. RESULTS: A heterozygous nonsense mutation c.289C>T (p.R97*) was identified in the OTX2 gene among three patients from the pedigree by WES. The result was confirmed by Sanger sequencing. The proband's mother has carried the same mutation but did not have microphthalmia. The proband's father, aunt and the mother's fetus did not carry the mutation. CONCLUSION The c.289C>T (p.R97*) mutation probably underlies the microphthalmia in this pedigree. Above result has facilitated genetic counseling and prenatal diagnosis.
China ; Female ; Humans ; Male ; Microphthalmos/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Whole Exome Sequencing

BACKGROUND: Bilateral Tessier number 3 clefts are extremely rare, and their surgical treatments have not been well established. CASE PRESENTATION: The authors describe the case of a patient with a right Tessier number 3, 11 facial cleft with microphthalmia, a left Tessier number 3 facial cleft with anophthalmia, and cleft palate. We repaired simultaneously the bilateral soft tissue clefts by premaxillary repositioning, cleft lip repair, facial cleft repair by nasal lengthening, midfacial advancement, and an upper eyelid transposition flap with repositioning both the medial canthi. Postoperatively, the patient showed an esthetically acceptable face without unnatural scars. CONCLUSIONS: We achieved good results functionally and esthetically by midfacial advancement with facial muscle reposition instead of traditional interdigitating Z-plasties. The surgical modality of our anatomical repair and 3 months follow-up results are presented.
Anophthalmos ; Cicatrix ; Cleft Lip ; Cleft Palate ; Eyelids ; Facial Muscles ; Follow-Up Studies ; Humans ; Microphthalmos

PURPOSE: Choristomas represent congenital overgrowth of normal tissues in an abnormal location. The simultaneous presence of epibulbar choristoma and microphthalmos has rarely been reported. The authors report a case of extensive epibulbar choristoma associated with microphthalmos. CASE SUMMARY: A 9-day-old boy with the left eyeball absent from birth was referred to our clinic. A large cornea-like structure covered by keratinized membrane was observed inside the eyelid aperture, therefore buphthalmos or corneal staphyloma with microphthalmos was presumed. At the age of 2 months, a large mass of central conjunctival sac protruded through the left eyelid aperture. Manual reduction could not return the tissue to its original site and the mass immediately protruded again. At the age of 9 months, orbital magnetic resonance imaging showed the small presumed ocular tissue behind the large mass of fat signal in the central anterior orbit, therefore, extensive epibulbar choristoma associated with microphthalmos was diagnosed. At 12 months of age, partial excision of the protruding portion of the mass was performed. Based on pathologic examination, the mass was determined to be a choristoma and cosmetically acceptable appearance with prosthesis was maintained for 10 months after the surgery. CONCLUSIONS: Because there is no vision in extensive choristoma associated with microphthalmos, the treatment goal is cosmetic improvement. Conjunctivoplasty following partial mass excision for prosthesis wearing is a good treatment option.
Choristoma* ; Eyelids ; Humans ; Hydrophthalmos ; Lacrimal Apparatus ; Magnetic Resonance Imaging ; Male ; Membranes ; Microphthalmos* ; Orbit ; Parturition ; Prostheses and Implants

Amniotic constriction band is a rare clinical entity with varied manifestations that range from a combination of congenital malformations to isolated malformations that are unique to each patient. The etiology of this entity remains unknown. Herein, we highlight two cases of amniotic constriction band that presented to our unit with unique clinical characteristics. To the best of our knowledge, an isolated circumferential band of scarring on the face with ocular involvement, as demonstrated by the first case, and a combination of bilateral complete cleft lip and palate with bilateral microphthalmia, auto-amputation of the right thumb, and a constriction band on the left thumb, as demonstrated by the second case, are extremely rare presentations of amniotic constriction band that were not previously reported in the literature and therefore necessitate a special mention. We discuss potential etiologies for these cases and review the existing literature on this entity.
Cicatrix ; Cleft Lip ; Constriction* ; Humans ; Microphthalmos ; Palate ; Thumb

PURPOSE: To evaluate whether intraocular pressure reduction by intravenous injection of mannitol before phacoemulsification-cataract surgery can have a protective effect on corneal endothelium. METHODS: Patients undergoing sequential bilateral cataract surgery were divided into 2 groups, 36 eyes with anterior chamber depth (ACD) < 2.50 mm (group A) and 44 eyes with ACD > or = 2.50 mm (group B). In each group, preoperative intravenous injection of mannitol was performed in 1 randomly selected eye of the patient. The specular microscopic examination including cell density (ECD), coefficient of variation (CV), hexagonality (HA) of corneal endothelium, and corneal thickness was performed on postoperative 1 day, 2 weeks, and 5 weeks. In each group, the parameters were compared between the eyes with mannitolization and the contralateral eyes without mannitolization. RESULTS: In group A, eyes with preoperative mannitolization showed significantly higher ECD at postoperative 1 day and 5 weeks and showed a significantly thinner cornea at postoperative 1 day than those without mannitolization (all p < 0.05). However, in group B, there was no significant difference of ECD, CV, HA, and corneal thickness between the eyes with and without mannitolization. CONCLUSIONS: Preoperative intraocular pressure reduction by mannitolization before phacoemulsification can protect the corneal endothelial cells and recover the early postoperative period visual acuity in eyes with shallow anterior chamber.
Anterior Chamber ; Cataract* ; Cell Count ; Cornea ; Endothelial Cells ; Endothelium, Corneal* ; Humans ; Injections, Intravenous ; Intraocular Pressure* ; Mannitol ; Microphthalmos ; Phacoemulsification ; Postoperative Period ; Visual Acuity

MIDAS syndrome (microphthalmia-dermal aplasia-sclerocornea) is an X-linked dominant genetic disease. In most patients, the unbalanced translocation or deletion of the X chromosome short-arm 22.3 band is observed. This disease characteristically presents as linear atrophy of the skin limited to the face and neck, accompanied by congenital eye disease. A 9-month-old female who had linear skin atrophy on the right side of her chin visited our clinic. She also presented with microphthalmia and sclerocornea on her right eye. Results of a chromosomal study revealed a deletion of the X-chromosome short-arm 22.31 band. Here, we report on this MIDAS syndrome patient with linear skin atrophy on the face.
Atrophy* ; Chin ; Eye Diseases ; Female ; Humans ; Infant ; Microphthalmos ; Neck ; Skin* ; X Chromosome

Congenital microphthalmia is a rare anomaly of the fetal orbit resulting from developmental defects of the primary optic vesicle. Chromosomal anomalies, genetic defect, infection, and prenatal drug exposure are the most common causes. Congenital microphthalmia is usually associated with other abnormalities, and cases of isolated microphthalmia are rarely reported. Congenital microphthalmia can be diagnosed by prenatal ultrasound by measuring the axial diameter of the eye ball, but the accuracy depends on fetal position and associated anomalies. We report a case of an isolated unilateral microphthalmia which was not diagnosed by prenatal ultrasound, because the only abnormal prenatal ultrasound finding was a small hyperechoic mass lesion in the eye ball and the subsequent scan of the orbits was limited due to fetal prone position. The hyperechoic mass lesion in the eye ball was finally diagnosed as a persistent hyperplastic primary vitreous with hemorrhage by neonatal magnetic resonance image.
Hemorrhage* ; Microphthalmos* ; Orbit* ; Persistent Hyperplastic Primary Vitreous ; Prone Position ; Ultrasonography*

Osteoclasts are unique cells that degrade the bone matrix. These large multinucleated cells differentiate from the monocyte/macrophage lineage upon stimulation by two essential cytokines, macrophage colony-stimulating factor (M-CSF) and receptor activator of nuclear factor-kappa B (NF-kappaB) ligand (RANKL). Activation of transcription factors such as microphthalmia transcription factor (MITF), c-Fos, NF-kappaB, and nuclear factor-activated T cells c1 (NFATc1) is required for sufficient osteoclast differentiation. In particular, NFATc1 plays the role of a master transcription regulator of osteoclast differentiation. To date, several mechanisms, including transcription, methylation, ubiquitination, acetylation, and non-coding RNAs, have been shown to regulate expression and activation of NFATc1. In this review, we have summarized the various mechanisms that control NFATc1 regulation during osteoclast differentiation.
Acetylation ; Bone Matrix ; Cytokines ; Gene Expression Regulation ; Macrophage Colony-Stimulating Factor ; Methylation ; Microphthalmos ; NF-kappa B ; NFATC Transcription Factors ; Osteoclasts* ; RANK Ligand ; Receptor Activator of Nuclear Factor-kappa B ; RNA, Untranslated ; T-Lymphocytes ; Transcription Factors ; Ubiquitin ; Ubiquitination

To report multiple congenital ocular defects in a Bedlington terrier dog aged 2.5 months with blindness. Routine ophthalmic examinations were performed for the clinical signs. Menace responses and cotton ball test were absent in both eyes (OU), but pupillary light reflexes were normal in OU. Slit lamp biomicroscopy reveled corneal dystrophy, posterior subcapsular cataract, microphthalmia in OU and lenticular coloboma in the right eye. In indirect ophthalmoscopy and ultrasonography, retinal detachment and posterior lenticonus were shown in OU. It is the first report of lenticular coloboma and posterior lenticonus in a Bedlington terrier dog.
Aged ; Animals ; Blindness ; Cataract ; Coloboma ; Dogs ; Eye ; Humans ; Light ; Microphthalmos ; Ophthalmoscopy ; Reflex ; Retinal Detachment