an 8-year - old girl visited us with a chief complaint of low visual acuity in both eyes . she was diagnosed with a developmental delay , known as achondroplasia , seven months after birth . she was born at term by vaginal delivery with normal birth weight ( 4.2 kg ) . there was no family history of hereditary ocular or systemic disease , and no history of drug intake by her mother . grossly , the patient featured telecanthus and low nasal dorsum , and also had short , thick fingers ( fig . , the intervertebral distance between the lumbar spine was narrowed , and the bones in the upper and lower extremities were typically short and thick ( fig . 2 ) . there were no findings that are suggestive of mental retardation or hearing difficulty , and there were no specific findings upon brain magnetic resonance imaging and brain computed tomography . at the time of initial visit , she demonstrated good eyeball movement and was orthophoric . upon slit lamp examination , the notable findings regarding the anterior segment were not observed . upon gonioscopic examination , the light reflex was normal in both eyes , and there was no relative afferent pupillary defect . cycloplegic refraction revealed a refractive error of + 3.00 diopter ( d ) in the right eye and + 2.50 d in the left eye . upon fundoscopy , the cup to disc ratio was increased to 0.8 in the right eye and 0.7 in the left eye , and bo th optic discs were colobomatous . in optical coherence tomography , 3 ) . but visual field test could not be checked due to poor cooperation . symmetrically to both eyes , there were two optic disc - sized chorioretinal coloboma below the optic disc ( fig . , there were no notable findings other than hypoflurescent in the areas of chorioretinal coloboma ( fig . 5 ) . however , when we tried electroretinography for evaluation of retinal dystrophy , she failed the test . thereafter , there were no changes in the fundoscopic findings in both eyes over 12 months . achondroplasia is an autosomal dominant trait that occurs as a result of the mutation of genes encoding fibroblast growth fgfr3 . telecanthus was found in 26 ( 50% ) of 52 patients and v type exotropia and bilateral inferior oblique muscle overaction were seen in 10 ( 20% ) patients . five patients presented with the tortousity of retinal blood vessels . in 26 of 46 patients , there were angle abnormalities , such as the definite presence of the iris process , and an incomplete sequestration and abnormal tissue at the anterior angle . reported that duane retraction syndrome and cone - rod retinal dystrophy were concurrently present in children with achondroplasia . chorioretinal coloboma developed due to an in complete closure of the optic fissure during 6 to 7 weeks in the embryonic period . also noted was the concurrent malformation of other organs . maumenee and mitchell   proposed the hypothesis that this disease entity occurs due to the genetic defects of a single gene . these authors noted that it occurs in the early embryonic stage and features a high incidence of systemic and central organ malformation . reported retinal and choroidal detachment ( 8 eyes ) , microphthalmos ( 13 eyes ) , microcornea ( 6 eyes ) , 18 cases ( 38% ) of systemic malformations , such as charge syndrome , developmental delay , facial deformity , cleft palate , and transposition of the great vessel in 48 patients ( 86 eyes ) with chorioretinal coloboma . according to these authors , due to the difficulty of the treatment of chorioretinal detachment , which can be concurrent with chorioretinal coloboma , the early detection and prophylactic management would be important . because children are less likely than adults to be aware of and to report monocular visual loss , unilateral and even bilateral retinal or choroidal detachments in an already visually impaired child may remain undiagnosed for a long period of time . this diagnostic delay would make subsequent retinal detachment surgery less likely to be successful . herein , we report the correlation between achondroplasia and chorioretinal coloboma , which may be higher in the embryonic stage . it is , therefore , assumed that early and regular ophthalmologic examination would be essential to pediatric patients with achondroplasia .
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 m 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 .