IMAGE OF THE MONTH: September 2023

Rule Out Retinal Detachment?

Submitted by Karen Jeng-Miller, MD, MPH (Atrius Health)

57 year old man was referred to the retina clinic to rule out a chronic retinal detachment in the right eye.

He felt this vision had been getting worse in the left eye over the past year but otherwise had no ocular complaints. Past ocular history was significant for surgery for left nasolacrimal duct obstruction.

Visual acuity was 20/20 in the right eye, 20/30 in the left eye.  Confrontational visual fields revealed a superotemporal field defect in the right eye and was full in the left eye.

A 45 year old healthy female was referred by her ophthalmologist due to the abnormal fundus exam shown below. She has no family history of eye disease. The patient was asymptomatic and visual acuity was 20/20 OD and 20/20 OS.

Click on image above to enlarge

DIAGNOSIS


This patient was diagnosed with a chorioretinal coloboma. An OCT through the coloboma (unavailable) revealed no evidence of an associated retinal detachment.

Chorioretinal colobomas are due to failure of posterior closure of the embryonic fissure, usually concluding at week 7 gestation.1 Chorioretinal colobomas are most commonly inferonasal and can be unilateral or bilateral. Most cases are sporadic. More common systemic associations include CHARGE syndrome (Colobomas, Heart defects, choanal Atresia, Retardation of Growth, genital abnormalities and Ear abnormalities), Aicardi syndrome, Trisomy 13 and Trisomy 18.2 Those with systemic abnormalities in addition to colobomas should have genetic evaluation. Differential diagnosis can include trauma, chorioretinal scar (often following a retinal detachment repair) or staphylomas.

The strongest predictor of visual acuity related to a chorioretinal coloboma is foveal involvement. Amblyopia is commonly present and this should be treated with refraction and/or patching as necessary. Regular monitoring in these patients should occur due to an increased risk of retinal detachment. 3 Choroidal neovascularization can also develop and should be treated if vision threatening.


1.Azzam D, Bordoni B. Embryology, Optic Fissure. [Updated 2023 Apr 3]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK554433/


2.Bavbek, T., Ogüt, M. S. & Kazokoglu, H. Congenital lens coloboma and associated pathologies. Doc. Ophthalmol. Adv. Ophthalmol. 83, 313–322 (1993).


3.Schubert, H. D. Structureal Organization of Choroidal Colobomas of Young and Adult Patients and Mechanism of Retinal Detachment. Trans. Am. Ophthalmol. Soc. 103, 457–472 (2005).


Have an interesting image to share?

Email it to us at vitbuckleimage@gmail.com