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

A 68-year-old female was referred to our ophthalmologic department due to pain, redness and decreased vision of the left eye. She had saddle nose deformity and erythematous swelling and deformity on right anricle. Both eyes represented recurring conjunctival injection and chemosis, episcleral injection, and anterior uveitis on follow-up examinations. Left eye showed proptosis and limitation of eyeball movement with acute increase of IOP. The fluorescein angiography showed the choroidal folds which were seen as alternating lines of hyper- and hypofluorescence. B-scan ultrasonograms showed thickening of posterior coats of eye and retrobulbar edema, which seemed to be critical in the diagnosis of the posterior scleritis.
Aged ; Choroid ; Congenital Abnormalities ; Diagnosis ; Edema ; Exophthalmos ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Humans ; Nose ; Polychondritis, Relapsing* ; Scleritis* ; Ultrasonography ; Uveitis, Anterior

A 68-year-old female was referred to our ophthalmologic department due to pain, redness and decreased vision of the left eye. She had saddle nose deformity and erythematous swelling and deformity on right anricle. Both eyes represented recurring conjunctival injection and chemosis, episcleral injection, and anterior uveitis on follow-up examinations. Left eye showed proptosis and limitation of eyeball movement with acute increase of IOP. The fluorescein angiography showed the choroidal folds which were seen as alternating lines of hyper- and hypofluorescence. B-scan ultrasonograms showed thickening of posterior coats of eye and retrobulbar edema, which seemed to be critical in the diagnosis of the posterior scleritis.
Aged ; Choroid ; Congenital Abnormalities ; Diagnosis ; Edema ; Exophthalmos ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Humans ; Nose ; Polychondritis, Relapsing* ; Scleritis* ; Ultrasonography ; Uveitis, Anterior