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 µm 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.
PurposeTo identify altered patterns of retinal mRNA expression in a rat model of oxygen-induced retinopathy (OIR).MethodsSprague-Dawley rats from P2 to P14 were exposed to hyperoxia (80% oxygen) to induce OIR and then returned to normoxic conditions. Control rats were sustained in room air. Retinal gene expression between the rats of OIR and the controls was compared using cDNA microarray analysis. Reverse transcriptase polymerase chain reaction (RT-PCR) was used to verify the microarray results.ResultsAmong a total of 12,731 cDNAs analyzed by mircroarray, 13 genes were strongly up- or down-regulated (>2-fold change over controls) in the OIR rats. We found a significant increase in expression of 10 genes (CaM-kinase II inhibitor; acidic nuclear phosphoprotein 32 family, member A; vascular endothelial growth factor; interferon α-inducible protein 27-like; similar to enthoprotin, epsin 4, clathrin interacting protein; nidogen [entactin]; tubulin, β5; fibrillin-1; spectrin β2; and stearoyl-coenzyme A desaturase 2) and a significant decrease in expression of 3 genes (myelin-associated oligodendrocytic basic protein, heat shock protein, and decorin) in OIR rats compared to controls.ConclusionsWe confirmed changes in expressions of various retinal genes in a rat model of OIR by microarray and RT-PCR. This study should contribute to the understanding of genetic indicators associeated with OIR.
To report acute onset lens particle glaucoma associated with a spontaneous anterior capsular dehiscence. A 66-year-old man presented with spontaneous anterior lens capsule dehiscence with an acute onset of right eye pain that was associated with white particles in the anterior chamber angle and intraocular pressure (IOP) of 55 mmHg. No trauma or other inflammatory antecedents were reported. A hypermature cataract was observed at slit lamp exam. After medical treatment without IOP control, we performed extracapsular cataract extraction and anterior vitrectomy. Anterior chamber aspirate confirmed the presence of macrophages. The postoperative IOP at one month was 16 mmHg OD without medication. Spontaneous dehiscence of the anterior lens capsule in a patient with a hypermature cataract may release lens cortical material, resulting in lens particle glaucoma. Prompt surgical removal of the lens material usually controls the high IOP, and the need for additional glaucoma surgery is not common.
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