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

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

We report a case of recurrent choroidal neovascularization (CNV) in an eye with chorioretinal coloboma. A 36-year-old woman presented complaining of decreased visual acuity (VA) in her left eye. Best corrected visual acuity (BCVA) was 20/200 and iris coloboma was observed. Funduscopy and fluorescein angiography (FA) showed CNV in the superior extrafoveal region with chorioretinal coloboma reaching just inferior to the optic disc. No other cause for CNV was observed except for the chorioretinal coloboma. BCVA improved to 20/30 after laser photocoagulation. She revisited our clinic for deteriorating VA (20/400) in the same eye 3 years after treatment. Funduscopy and FA demonstrated recurrent CNV with subfoveal hemorrhage. Photodynamic therapy (PDT) was followed by three consecutive intravitreal bevacizumab injections (IVB) for the subfoveally-located CNV. However, the CNV persisted with the appearance of a fresh subretinal hemorrhage. Additional PDT was combined with IVB on the same day 6 months after the initial PDT. The CNV regressed 3 months after treatment and has not recurred as of 8 months after the last treatment. The patient's BCVA improved to 20/60. This case suggests that PDT combined with IVB can be an alternative treatment for the management of recurrent CNV after laser photocoagulation in eyes with chorioretinal coloboma.
Adult ; Angiogenesis Inhibitors/administration & dosage ; Antibodies, Monoclonal/administration & dosage ; Choroid Diseases/*complications/drug therapy/surgery ; Choroidal Neovascularization/diagnosis/*etiology/physiopathology ; Coloboma/*complications/drug therapy/surgery ; Female ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Intravitreal Injections ; Laser Coagulation ; Photochemotherapy ; Recurrence ; Visual Acuity