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

It has been reported that pulsations in abnormal vessels are observed on indocyanine green (ICG) angiography in half of patients with polypoidal choroidal vasculopathy (PCV), although the mechanism of the pulsation is unknown. In this study, we report a case of PCV showing venous pulsations at an arterio-venous (A-V) crossing, and discuss a possible mechanism of polypoidal vessel formation and pulsations in PCV. A 66-year-old female presented with a reddish-orange elevated lesion and serous retinal detachment in the macula of her left eye, and was diagnosed as PCV. She was treated with photodynamic therapy (PDT), and followed-up through routine examinations, including ICG angiography. ICG angiography at presentation showed a branching vascular network and choroidal venules with dye leakage (polypoidal vessels) in the left eye. Pulsations, supposedly of venous origin, were observed at an A-V crossing in the abnormal vessels. Within 3 months after PDT, the polypoidal vessel ceased to leak and the pulsations vanished. The reddish-orange lesion gradually decreased in size with complete disappearance of retinal detachment. This study suggests that an unusual compression at an A-V crossing may make a venule polypoidal, and fluctuations of blood flow and pressure in the venule may cause pulsatile movements of the vessel wall.
Aged ; Choroid/*blood supply ; Choroid Diseases/*diagnosis/physiopathology ; Diagnosis, Differential ; Female ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Retinal Vessels/*abnormalities/physiopathology

Complicated microphthalmos can be diagnosed when a reduction in global dimension is combined with other ocular anomalies. These include corneal opacities or staphylomas, cataract, aniridia, corectopia, persistance of pupillary membrane or the tunica vasculosa lentis and hyaloid vessel, thickening or ossification of the choroid and various retinal anomalies. Such a deformity is frequently bereditary, and the transmission may be either as an autosomal dominant or recessive or as a sex linked recessive character. A 10-day-old female infant was found to have unilateral microphthalmos with microcornea, corneal opacity, and aphakia.
Aniridia ; Aphakia ; Cataract ; Choroid ; Congenital Abnormalities ; Corneal Opacity ; Female ; Humans ; Infant ; Membranes ; Microphthalmos ; Retinaldehyde

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 microm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia.
Achondroplasia/*complications/diagnosis ; Child ; Choroid/*abnormalities ; Choroid Diseases/*complications/diagnosis ; Coloboma/*complications/diagnosis ; Female ; Humans ; Ophthalmoscopes ; Tomography, Optical Coherence ; Visual Acuity

Sturge-Weber syndrome is a congenital disorder characterized by facial nevus flammeus along the distribution of the trigeminal nerve, ipsilatal leptomeningioma, buphthalmos, and choroidal angioma. The Authors experienced a case of Sturge-Weber syndrome in 9 year old female patient and glaucoma was controlled by trabecuectomy without any complications.
Child ; Choroid ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Female ; Glaucoma ; Hemangioma ; Humans ; Hydrophthalmos ; Port-Wine Stain ; Sturge-Weber Syndrome* ; Trigeminal Nerve

We report a rare case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome. A 25-year-old female who had suffered from poor vision in her left eye since early childhood and high myopia in her right eye (-11 D) visited our clinic because of a sudden deterioration of vision. Examination of the anterior segment showed microcornea with coloboma of the inferior pupil margin in the left iris. Fundus examination of the left eye revealed an inferior choroidal coloboma extending from the optic disc and macula. The patient also had total bullous retinal detachment. Pars plana vitrectomy with silicone oil tamponade was performed, and the retina was reattached. In the very rare condition of colobomatous macropthalmos with microcornea, retinal detachment may develop. Pars plana vitrectomy with additional silicone oil tamponade may be performed to treat this condition.
Adult ; Choroid/*abnormalities ; Coloboma/*complications/diagnosis ; Cornea/*abnormalities ; Female ; Follow-Up Studies ; Humans ; Retinal Detachment/diagnosis/*etiology/surgery ; Syndrome ; Vitrectomy/methods

CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome.
Abnormalities, Multiple*/genetics ; Abnormalities, Multiple*/diagnosis ; Brain/abnormalities* ; Case Report ; Child, Preschool ; Choroid/abnormalities* ; Coloboma/genetics ; Coloboma/diagnosis* ; Ear, External/abnormalities ; Entropion/genetics ; Entropion/diagnosis ; Exotropia/genetics ; Exotropia/diagnosis ; Exotropia/congenital ; Facial Paralysis/genetics ; Facial Paralysis/congenital ; Female ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/diagnosis* ; Human ; Infant ; Karyotyping ; Male ; Mandible/abnormalities* ; Retina/abnormalities* ; Syndrome

PURPOSE: We report a case of visual loss after the injection of poly-L-lactic acid filler into the right forehead area for cosmetic purposes. CASE SUMMARY: A 46-year-old female patient visited our clinic due to sudden visual disturbance and dysesthesia on the right forehead and cheek. Her best corrected visual acuity was no light perception in the right eye and 20/20 in the left eye. Visual acuity in her right eye was not corrected. An afferent papillary defect in the right eye and paralysis of oculomotor muscles were observed. Fundus exam revealed a pale optic nerve and turbid retina on the posterior pole. The retinal vessels were narrowed. A papule 1 cm to the lateral margin of the right eyebrow due to the needle injection was found and no other visible skin abnormalities were observed. She had a cosmetic poly-L-lactic acid filler injection into the right forehead area immediately before the visual disturbance occurred. Fluorescent angiography showed occlusion of the right retinal artery and blood flow defects on the retina and choroid were present. The patient was followed up for 6 months and visual acuity and dysesthesia in her right forehead and cheek did not improve. CONCLUSIONS: Several cases of visual loss have occurred after injection of filler on the glabella and forehead for cosmetic purposes. However, most of the complications were observed after the use of hyaluronic fillers and not due to poly-L-lactic acid filler. This is the first case report of visual loss caused by poly-L-lactic acid filler in South Korea in a normal patient. Hence, consideration of complications when using this type of fillers is important.
Angiography ; Cheek ; Choroid ; Eyebrows ; Female ; Forehead* ; Humans ; Korea ; Middle Aged ; Needles ; Oculomotor Muscles ; Optic Nerve ; Paralysis ; Paresthesia ; Retina ; Retinal Artery ; Retinal Vessels ; Skin Abnormalities ; Visual Acuity

Sturge- Weber syndrome is a congenital disorder and marked by cutaneous angiomatosis along the distribution of the trigeminal nerve, ipsilateral leptomeningeal angiomatosis, bupthalmos and choroidal angioma. A 22 year old Korean woman was found to have red-purple colored pigmentation on the left hemifacial area, the left leptomeningeal angioma and the left openangle glaucoma.
Angiomatosis ; Brain Stem Infarctions ; Choroid ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Female ; Glaucoma ; Hemangioma ; Humans ; Pigmentation ; Sturge-Weber Syndrome* ; Trigeminal Nerve ; Young Adult