PURPOSE: To investigate incidental abnormal ocular findings that may cause visual impairment in neonates. METHODS: The medical records of patients requested for screening for retinopathy of prematurity (ROP) at our hospital's pediatrics department between March 2005 and July 2009 were retrospectively reviewed. Patients were classified into premature and mature neonates according to gestational age (under 37 weeks). RESULTS: A total of 2,090 eyes from 1,045 patients were comprised of 1,514 eyes of 757 premature neonates and 576 eyes of 288 mature neonates. Among 154 eyes of 78 patients (10.17%) who were diagnosed with ROP, 34 eyes of 18 patients had laser treatment. Seven eyes of 5 patients in the premature neonate group (0.46%), and 38 eyes of 23 patients in the mature neonate group (6.57%) were found to have abnormal ocular findings, excluding incidental ROP. Twenty-six eyes of 16 patients were found to have a retinal hemorrhage, and the majority had a birth history of perinatal distress, including birth asphyxia, meconium aspiration, and transient tachypnea of the newborn. Other findings included congenital cataracts, corneal opacity, macular coloboma, persistent hyperplastic primary vitreous, and abnormal fundus. CONCLUSIONS: The incidence of ocular abnormalities in neonates that cause visual impairment is low, but theses may threaten a child's life. Early detection and prompt treatment of ocular disorders in children are important in order to avoid permanent, lifelong visual impairment. Therefore, ophthalmic examinations are essential, even in normal neonates, for early detection of ocular disorders.
Asphyxia ; Cataract ; Child ; Coloboma ; Congenital Abnormalities ; Corneal Opacity ; Diterpenes ; Eye ; Gestational Age ; Humans ; Incidence ; Infant, Newborn ; Macula Lutea ; Mass Screening ; Meconium Aspiration Syndrome ; Medical Records ; Parturition ; Pediatrics ; Persistent Hyperplastic Primary Vitreous ; Reproductive History ; Retinal Hemorrhage ; Retinopathy of Prematurity ; Retrospective Studies ; Transient Tachypnea of the Newborn ; Vision Disorders

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

Anophthalmos is a complete absence of the tissues of the eye. Embryologically, anophthalmos denotes those cases wherein there is complete failure in the outgrowth of the primary optic vesicle. When essential structures of the eye are present, the aonormality is microphthalmos, no matter how small the eye may be. Clinical anophthalmos represents the majority of cases in which the eye appears to be absent. Congenital anophthalmos is one of the rare ophthalmic anomalies, only 5 cases were reported in Korea and about 100 cases in the world. We report this case with a brief review of literatures.
Anophthalmos* ; Korea ; Microphthalmos

Authors observed clinically for congenital anophthalmos in two cases. One case was a boy, aged 6 years, having congenital anophthalmos of right eye with bifid uvula and another case was newbron baby, aged 4 days, having congenital anophthalmos and blepharophimosis of left eye and was born to undernutciented mother from chronic hepatitis.
Anophthalmos* ; Blepharophimosis ; Hepatitis, Chronic ; Humans ; Male ; Mothers ; Uvula

Methods: This is a report of a case of cryptophthalmos seen at the University of the Philippines-Philippine General Hospital (UP-PGH). Differential diagnosis and management options are discussed. Results: A 12-day old boy presented with no right palpebral fissure, eyelashes, or eyebrow. The skin overlying the right orbit was continuous from the forehead to the cheek. Under this skin was a 17 mm x 15 mm soft, round, movable mass anterior to the globe. The left upper lid was colobomatous with no eyebrow and fornix. The left cornea measured 9 mm x 6 mm with exposure keratitis and large ulcer. Ultrasound of the right orbit identified the presence of the right globe with normal posterior segment. Cranial computed tomography (CT) showed a cystic mass anterior to the right globe with absent lens. Visual-evoked response of the left eye established nonspecific severe optic-nerve damage, delayed visual-pathway maturation and visual-pathway affectation. Conclusion: Management of complete cryptophthalmos is difficult and requires separation of the lids and placement of mucous membrane grafts to allow for fitting of prosthesis. Reconstruction of the lid coloboma is necessary to prevent exposure keratitis. Genetic counseling is also important in the management of cryptophthalmos.
Human ; Male ; Child ; FRASER SYNDROME ; COLOBOMA ;

Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13.5 yr old boy and sister with a same terminal deletion of Xp22.2 resulting in the absence of genes from the telomere of Xp to GPR143 of Xp22. The boy manifested the findings of all of the disorders mentioned above. We began a testosterone enanthate monthly replacement therapy. His sister, 11 yr old, manifested only Leri-Weill dyschondrosteosis, and had engaged in growth hormone therapy for 3 yr. To the best of our knowledge, this is the first report of a male with a 9.7 Mb terminal Xp deletion including the OA1 locus in Korea.
Abnormalities, Multiple/*genetics ; Adolescent ; Child ; Chromosome Deletion ; *Chromosomes, Human, X ; Eye Proteins/genetics ; Female ; Genetic Loci ; Growth Hormone/therapeutic use ; Humans ; Male ; Membrane Glycoproteins/genetics ; Telomere/genetics ; WAGR Syndrome/*diagnosis/genetics/therapy

To investigate the effects of maternal hyperthermia on the formation of congenital anomalies, pregnant Hsp70 knock-out and wild type mice at gestational day (GD) 8.5 were immersed in 43degrees C water bath until their body core temperature reached at 43degrees C. Thereafter, pregnant mice were given more 5 minutes hyperthermic exposure. Pregnant mice were killed at GD 15.5, and fetuses were photographed for external appearance analysis. Fetuses with congenital anomalies such as anophthalmia and exencephaly were 72.6% (53 out of 73) in KO group and 28.2% (26 out of 90) in WT group, respectively. Histological findings showed exencephaly, eye abnormalities such as eyeball with retina only or buried eyeball or absence of eye structure, numerous apoptotic cells in the retina and inner ear neuroepithelium, cleft palate, and delayed endochondral ossification. The results of this study suggest that Hsp70 may have a protective function against heat shock.
Animals ; Anophthalmos ; Baths ; Cleft Palate ; Ear, Inner ; Eye Abnormalities ; Fetus* ; Fever* ; Hot Temperature ; Mice ; Mice, Knockout* ; Neural Tube Defects ; Retina ; Shock

Microphthalmos is a uncommon congenital ocular anomaly and the term is justified in that in all cases the eyes are smaller than normal. Microphthalmos is classified as various forms according to degrees of developmental abnormality. The authors experienced a case of microphthalmos with a large cyst in one eye and colobomatous microphthalmos in the other eye.
Coloboma ; Microphthalmos*

Congenital anophthalmos is fairly rare malformation in which the eyeball is apparently absent. We experienced a 10-day-old boy, who had a congenital anophthalmos of his left eye, a microphthalmos of the other eye and short palpebral fissure of both eyes(right: 12mm, left: 5mm). The absence of left eyeball within a small orbit was confirmed by C-T scanning. We report this interesting case with a brief review of literatures.
Anophthalmos* ; Humans ; Male ; Microphthalmos ; Orbit