BiIateraI congenitaI uveaI coIoboma concurrent with retinaI detachment

We are writing to present a bilateral uveal coloboma concurrent with retinal detachment (RD) in a 16-yearold girl.Colobomas are rare,congenital and potentially blinding malformations caused by incomplete closure of embryonic optic fissure.Uveal colobomas typically involve the inferior part of the choroid and/or iris and may sometimes cause retinal detachment.The visual prognosis of uveal colobomas is highly variable,which depends on its size and location.Poor visual acuity is often present when the uveal coloboma involves the macula.In this study,we report a case of a young patient with bilateral iridochoroidal coloboma who suffered from maculainvolved RD in both eyes,presenting the clinical characteristics and management of uveal colobomas-associated RD.

This study complied with the tenets of the Declaration of Helsinki.Written informed consent was obtained from the patient's mother for publication of this case report and any accompanying images.

A 16-year-old girl presented with progressively bilateral painless visual loss for 2wk.She reported poor vision since early childhood without remarkable medical and family history except laser treatment in her left eye several months ago.On examination,her best corrected visual acuity(BCVA) was 20/400 on both eyes and intraocular pressure was normal.Cycloplegic refraction revealed a compound myopic astigmatism of -4.75 DS/-2.00 DC in the right eye and-3.75 DS/-1.25 DC in the left eye.Biological measurements demonstrated an axial length of 25.06 and 25.19 mm in her right and left eyes,respectively.Nystagmus in both eyes was noted,especially when one of the eyes was covered.Slit-lamp examination showed a black notch at the inferior edge of the pupil suggestive of iridal coloboma (Figure 1).The cornea and lens in both eyes were normal.Fundus examination revealed large and oval gray-white lesions involving the macula and the inferior retinal quadrant in both eyes (Figures 2A and 3A).Bilaterally symmetrical choroidal coloboma concurrent with RD was further indicated by B-scan.Of note,detachment of the retina was found both inside and outside the colobomatous area (Figures 2B and 3B).Optical coherence tomography revealed macula-involved RD with regional retinoschisis,retina thinning,loss of ellipsoid zone,and an unidentified macular fovea (Figures 2C and 3C).A diagnosis of bilateral iridochoroidal coloboma consensus with RD was made.

The girl underwent 23-gauge pars plana vitrectomy (PPV)following silicone oil tamponade in both eyes successively.During surgery,detachment of the retina was found extending from the inside to the superior and temporal area outside the coloboma.Retinal tears were present within the colobomatous area on both eyes,which were treated with cryotherapy.Laser photocoagulation was applied at the margin of the coloboma.Her left eye showed successful retinal reattachment using dilated fundus examination and optical coherence tomography(Figure 2D and 2E),with the BCVA fluctuating between 20/100 and 20/80 during the follow-up periods.Silicone oil removal was performed 10mo after the primary procedures.Retinal thinning was found during the 1-year follow-up with a final BCVA of 20/100.In her right eye,the retina was found nearly reattached with a small gap over the colobomatous area at 1wk after surgery (Figure 3D).One month later,complete reattachment of the retina was observed (Figure 3E) and BCVA improved to 20/200.She had silicone oil removed several months later.At the 1-year follow-up after silicone oil removal,the retina remained completely attached and BCVA remained stable at 20/200.It was noted that the girl developed cortical cataract in both eyes several months after the primary surgery.Since the cataract was mild and showed no significant progression until the last follow-up,an observation was still conducted instead of cataract surgeries.Uveal colobomas are congenital and potentially blinding disorders with a prevalence of about 0.5-2.6 per 10 000 people and contributes to up to 10% of childhood blindness.Uveal colobomas are often associated with microcornea and microphthalmia as well as other ocular disorders,such as cataract,nystagmus and amblyopia,myopia,glaucoma,and RD.Patients with choroidal colobomas present increased risk of RD,with an incidence rate ranging from 2.4%-42%as reported.In this study,we present a case of bilateral iridochoroidal coloboma-related RD who had successful repair after long-term follow-up,which is rarely reported in the literatures.

The primary reattachment rate using PPV and silicone oil tamponade was once reported to be 81.7%.However,it was found that a considerable proportion of patients still had their silicone oil remaining for various reasons.In this level,they could not be defined as an eventual success since it is unclear whether retina could be attached after silicone oil removal,particularly in colobomatous eyes.Our patient had silicone oil removed in both eyes and presented with completely attached retinas in the 1-year follow-up,which we believed,could be demonstrated as a definite success.

Uveal colobomatous eyes with RD often present poor visual prognosis particularly when the macula is involved.One research reported that 60% of patients had the final BCVA of hand movement or worse,whereas another study demonstrated nearly 70% of patients had an average BCVA of 10/200 at 13mo after surgery.A review of pediatric patients with colobomas found that 38% of cases undergoing RD repair present an equal or better BCVA compared with non-surgical eyes,indicating the necessity and effectiveness of surgery.In this study,better BCVA was achieved in both eyes after surgery (20/400 to 20/200 OD and 20/400 to 20/100 OS) and maintained rather stable until the 1-year follow-up although mild cataract was present.Our case presents a satisfactory visual outcome as compared to previous studies,possibly due to incomplete involvement of the macula so that paracentral fixation is still available.

這兒子失眠，母親也睡不踏實。張大娘心想這孩子瘦得這么厲害，又整天精神不振的，到晚上還失眠……怕是丟了魂兒了，對，這孩子小時候身子就虛，十二歲那年被鄰村的狗追著跑就給嚇得幾天睡覺不安神……一定是！得把阿強的魂兒找回來！

Uveal coloboma-associated RD often requires surgical intervention to reattach the retina and improve visual acuity.Scleral buckling has been proposed as a treatment strategy when peripheral retinal tear rather than tears in the colobomatous zone is evident,with an anatomical success rate of 57%.However,the tears causing RD in the colobomatous eyes are often hidden within or at the edge of the colobomatous lesion,making them difficult to identify.Therefore,PPV combined with silicone oil or gas is highly recommended as it provides guarantee for identification and management of potential retinal tears.In this case,we carried out a thorough dilated funduscopic examination and found no visible tears in both eyes.Given this situation,we performed PPV combined with laser photocoagulation around the colobomatous area,transcleral cryotherapy inside the colobomatous area,and subsequent silicone oil endotamponade.Due to the absence of choroidal pigment of the coloboma,laser treatment always fails to seal retinal breaks inside this area.We therefore conducted transcleral cryotherapy for these breaks,which was proved to be effective.

要改變學生的動手畏懼心理，就必須從樹立信心和對失敗的認知狀態著手。從橫向的同學之間的比較引導到縱向的自我比較，利用大腦不斷設想演練動手實踐的過程和方法提高成功率，改變對失敗概念的認知，不外乎是消除畏懼心理的有效的方法之一。

蔬菜產業結構調整，沒有根本性改變傳統的生產經營方式，蔬菜生產在“種什么”、“種多少”、“賣到哪”、“賣給誰”是遇到的常見問題[3]，缺乏市場信息，種植的蔬菜雷同，導致同類蔬菜在市場上的相對過剩。同時，由于上一年某種蔬菜的暢銷和高漲，下一年大量追逐種植，有可能導致價格下跌，影響種植生產的積極性。例如：2016年12月，油白菜種植面積小，價格高，2017年12月，大量種植和上市，導致價格低廉、積壓等造成一定損失。

Uveal colobomas can exist either in isolation or associated with systemic abnormalities.Our patient did not present systemic abnormalities including cardiac and hearing disorders,mental retardation,and denied any family history.Nevertheless,it is highly recommended that ophthalmologists prompt a careful family history and systemic examination including ultrasonic cardiogram,audiometric tests,kidney ultrasound,spine imaging,.in patients with uveal colobomas.In conclusion,we report a young girl with bilateral uveal coloboma consensus with rhegmatogenous RD.PPV combined with laser photocoagulation around the colobomatous area,transcleral cryotherapy inside the colobomatous area,and silicone oil tamponade,could be effective alternatives for such complex RD.In addition,ophthalmologists should remain careful and thorough in assessing the patients with uveal coloboma to avoid any delay in the diagnosis and management of systemic disorders.

ACKNOWLEDGEMENTS

Huang ZJ,Yi JS,and Chen WQ did the collection of data.Huang ZJ and Chen WQ supported the preparation of the manuscript.Supervision was supportedby Chen WQ.All the authors read and approved the final manuscript.

None;None;None.