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*

Persistent hyperplastic primary vitreous(PHPV) is a congnital abnormality of the embryonic intraocular vasculature, resulting from the failure of regression of the primary vitreous in a full-term infant. PHPV is usually unilateral and characterized by leukocoria, elongated ciliary process, microphthalmia, cataract, rubeosis iridis, shallow anterior chamber, and secondary glaucoma. PHPV finally develops into retinal detachment, intractable glaucoma, and pthisis bulbi. Surgical treatment, involving lensectomy and vitrectomy, is not successful and poor visual result is obtained due to retinal abnormalities. A one-month-old girl was found to have persistent hyperplastic primary vitreous in both eyes, and she expired of unknown etiology at home 2 months after diagnosls.
Anterior Chamber ; Cataract ; Female ; Glaucoma ; Humans ; Infant ; Microphthalmos ; Persistent Hyperplastic Primary Vitreous* ; Retinal Detachment ; Retinaldehyde ; Vitrectomy

We analyzed 33 patients (39 eyes) who were surgically diagnosed as persistent hyperplastic primary vitreous (PHPV) with standardized B-scan ultrasonography. The eyes were evaluated for vitreous stalk or membrane, retrolental proliferation, retinal fold, vitreous opacity, and retinal detachment (64.1 %, 48.7 %, 15.4 %, 15.4 %, and 5.1 %, respectively) with the results. We classified these findings of PHPV into 5 types as follows, type 1: simple retinal fold or preretinal fold alone; type 2: retrolental proliferation alone; type 3: vitreous stalk or membrane; type 4: retrolental proliferation connected with vitreous stalk or membrane; type 5: complicated retinal detachment. The incidence of these types were 15.4%, 15.4%, 28.2 %, 33.3 %, and 5.1 %, respectively. Ultrasonographic findings would be used as a useful parameters to evaluate, document, and plan the management in PHPV.
Classification ; Humans ; Incidence ; Membranes ; Persistent Hyperplastic Primary Vitreous* ; Retinal Detachment ; Retinaldehyde ; Ultrasonography

The authors have examined 980 children with strabismus who were 6 years of age or under at the Eye Clinic of Yeungnam University Hospital. This study was conducted during the 4-year period between January 1990 and December 1994. The main objective of this study was to determine the incidence and clinical characteristics of fundus abnormality in children with strabismus. The total number of subjects in this study are 980 cases. Sixty subjects(6.1%) are found to have optic disc, chorioretinal and vitreous anomalies. Among them, 26 cases(43%) are diagnosed as having optic nervehypoplasia, in 7 cases (12%) coloboma, in 4 cases(7%) morning glory syndrome, in another 4 cases persistent hyperplastic primary vitreous, and in 3 cases retinoblastoma. In our study, 6.1% of the patients with strabismus are found to have disorders in optic disc and vitreoretina. These finding suggests that infants and young children with strabismus should have been examined to detect other related disorders of the eye.
Child* ; Coloboma ; Humans ; Incidence ; Infant ; Persistent Hyperplastic Primary Vitreous ; Retinoblastoma ; Strabismus*

PURPOSE: To evaluate the clinical findings, visual improvement and preservation of eye according to treatment modality among children with persistent hyperplastic primary vitreous (PHPV) METHODS: A retrospective study, from 1982 to 2001, at Seoul National University Children's Hospital RESULTS: The subjects for investigation were 126 PHPV eyes in 114 children. The mean age at first exam was 3.6 +/- 3.5months, and the mean age at operation was 13.3 +/- 12.1months. Combined type (67%) was most common, followed by posterior (24%), and anterior (9%) types. The chief complaints in order of frequency were are leukocoria (35%), no fixation (23%), strabismus (21%), and microophthalmia (12%). Percentages of eye preservation and visual improvement over 20/1000 were 77%, and 57%, respectively. Nevertheless, the percentage of visual improvement over 20/200 in the anterior type was 25%. CONCLUSIONS: Combined type was most common in PHPV. Clinical findings and treatment modality varieds according to the type. Visual prognosis was poor. However, the post-treatment status was good in view of the treatment purpose. Therefore we can optain a good outcome through active treatment after the exact classification of PHPV eyes and by establishing the treatment purpose.
Child ; Classification ; Humans ; Persistent Hyperplastic Primary Vitreous* ; Prognosis* ; Retrospective Studies ; Seoul ; Strabismus

We analysed a retrospective study of 23 patients (29 eyes) who were clinically and radiologically diagnosed as persistent hyperplastic primary vitreous from January 1984 to June 1992 at St. Mary's Hospital, Catholic University Medical College, by observing the clinical findings, results of CT or MRI, incidence of complications and postoperative visual acuity. The results were as follows: 1. The unilateral ocular involvement was 73.9% and bilateral ocular involvement was 26.1%. 2. The common presenting clinical signs were shallow anterior chamber, lens opacity, vitreous opacity and microphthalmos. 3. The main features of CT or MRI were lens defcrmity, shallow anterior chamber, vitreous opacity and microphthalmos. 4. The complications were glaucoma (31.0%), intraocular hemorrhages (10.3%), posterior synechiae (17.2%) and phthisis bulbi (6.9%). 5. The postoperative visual acuity was not improved than preoperative levels.
Anterior Chamber ; Cataract ; Glaucoma ; Hemorrhage ; Humans ; Incidence ; Magnetic Resonance Imaging ; Microphthalmos ; Persistent Hyperplastic Primary Vitreous* ; Retrospective Studies ; Visual Acuity

Retinoblastoma is a highly malignant intraocular tumor of childhood that requires accurate diagnosis and prompt treatment. The diagnosis of retinoblastoma is based on the fundus finding and noninvasive radiologic evaluation, but sometimes retinoblastoma is clinically misdiagnosed as nonneoplastic lesion such as Coats' disease, persistent hyperplastic primary vitreous, toxocariasis and old retinal detachment and sometimes vice versa. We performed fine needle aspiration biopsies in two cases, in whom retinoblastoma or Coats' disease was suspected but there was diagnostic uncertainty on fundus finding, orbit CT or MRI. The cytologic diagnosis of two cases was retinoblastoma. And after enucleation final histopathologic diagnosis correlated with the cytodiagnosis. We think that fine needle aspiration biopsy may be helpful in establishing the diagnosis in difficult cases of childhood leukocoria including retionblastoma.
Biopsy* ; Biopsy, Fine-Needle* ; Cytodiagnosis ; Diagnosis ; Magnetic Resonance Imaging ; Orbit ; Persistent Hyperplastic Primary Vitreous ; Retinal Detachment ; Retinoblastoma* ; Toxocariasis ; Uncertainty

White pupil is one of the most disturbing problems in the pediatric age group and many conditions can cause white pupil, but the differential diagnosis between the retinoblastoma and other conditions simulating it, is the prime importance in the evaluation of the white pupil. The ophthalmoscopy is the most accurate diagnostic method for evaluating intraocular diseases because it is able to see directly. However, its usefulness seems to be limited in the case of extreme lens opacity or vitreous opacity and in the evaluation of orbital diseases extending outside of the globe. Recent advances of high resolution computed tomography(CT), the axial tomographic images of the orbit were markedly improved and represented good anatomic details of the orbit and the topographic relationship with surrounding structures. We reviewed CT findings of 15 children who presented white pupil and had results demonstrating specific findings in the cases of retinoblastoma, persistent hyperplastic primary vitreous and vitreous opacity due to retinal detachment and retrolental fibroplasia. The CT findings of each disease are discussed with detail.
Cataract ; Child* ; Diagnosis, Differential ; Humans ; Ophthalmoscopy ; Orbit ; Orbital Diseases ; Persistent Hyperplastic Primary Vitreous ; Pupil* ; Retinal Detachment ; Retinoblastoma ; Retinopathy of Prematurity

PURPOSE: To present the results of eye screening examinations using RetCam in healthy newborns. METHODS: Eye screening examinations were performed using the RetCam wide-field digital imaging system (Clarity Medical System, Pleasanton, CA, USA), as requested by parents, on healthy newborns within a week after birth in an obstetrics and gynecology hospital between June 2012 and September 2014. During the examination, photographs were taken showing red reflex and the fundus. The reading was conducted by a pediatric ophthalmologist. RESULTS: The examinations included a total of 10,023 newborn babies, and abnormalities were discovered in 2,916 patients (29.09%). The most commonly found abnormality was retinal hemorrhage, which was discovered in 2,796 babies (27.89%) and 471 patients showed a large amount of bleeding or macular hemorrhage. In 71 patients (0.7%), ophthalmologic examination was recommended after newborns presented with one of the following conditions: congenital cataracts, retinoblastoma, persistent hyperplastic primary vitreous, vitreous hemorrhaging, persistent pupillary membrane, choroidal nevus or albinism. Due to unclear photographs, 85 eyes of 49 patients (0.48%) could not be read. CONCLUSIONS: Ophthalmologic screening using RetCam is a safe, simple and useful technique for discovering ophthalmologic abnormalities. Additionally, when abnormalities are suspected, the role of a pediatric ophthalmologist is increasingly important in helping patients receive appropriate ophthalmologic treatment. Furthermore, retinal hemorrhage, which occurred in the majority of all observed abnormalities, requires further investigation to examine the possibilities of amblyopia in cases with a large amount of bleeding or macula involvement.
Albinism ; Amblyopia ; Cataract ; Choroid ; Gynecology ; Hemorrhage ; Humans ; Infant, Newborn* ; Mass Screening* ; Membranes ; Nevus ; Obstetrics ; Parents ; Parturition ; Persistent Hyperplastic Primary Vitreous ; Reflex ; Retinal Hemorrhage ; Retinoblastoma

PURPOSE: To report the clinical characteristics of retinoblastoma patients whose diagnosis was difficult due to atypical ocular manifestations. METHODS: Among retinoblastoma patients who were diagnosed and treated from January 1999 to December 2014 at Seoul National University Children's Hospital, 6 patients whose diagnosis was difficult were retrospectively reviewed. Factors including age, sex, family history, initial findings, time to final diagnosis, histopathologic examination, additional treatment, and survival rate were evaluated. RESULTS: Among 6 patients, 5 were male, and the mean age at the initial visit was 32.9 ± 19.1 months. None of the patients had family history, and all presented with unilateral lesion at the initial visit. The initial diagnoses were Coats' disease and uveitis in 2 patients, respectively, and persistent hyperplastic primary vitreous and traumatic hyphema in 1 patient, respectively. During an intensive short-term follow-up of 8.3 ± 5.3 weeks, 2 patients showed malignant cells after external subretinal fluid drainage procedure, and 4 patients demonstrated increasing ocular size or calcification in imaging. These patients received enucleation under suspicion of malignancy and were finally diagnosed with retinoblastoma after histopathologic examination. There were 2 patients with optic nerve involvement, and 3 patients underwent additional systemic chemotherapy. Five patients were followed-up for 7.6 ± 6.3 years after enucleation, and the mean age at final follow-up was 10.6 ± 7.4 years. CONCLUSIONS: Retinoblastoma is one of the diseases in which early diagnosis and treatment are important. However, some cases are difficult to diagnose, even for experienced clinicians. If there are no typical manifestations such as mass or calcification and early findings show retinal detachment, glaucoma, pseudohypopyon, or hyphema, intensive short-term follow-up to exclude retinoblastoma is needed.
Diagnosis* ; Drainage ; Drug Therapy ; Early Diagnosis ; Follow-Up Studies ; Glaucoma ; Humans ; Hyphema ; Male ; Optic Nerve ; Persistent Hyperplastic Primary Vitreous ; Retinal Detachment ; Retinoblastoma* ; Retrospective Studies ; Seoul ; Subretinal Fluid ; Survival Rate ; Uveitis