Intercalary membrane break and detachment causes intrachoroidal cavitation in macular coloboma

International Ophthalmology - Tập 42 - Trang 2581-2589 - 2022
Ramesh Venkatesh1, Rohit Agrawal1, Nikitha Gurram Reddy1, Aditi Gupta1, Naresh Kumar Yadav1, Jay Chhablani2
1Department of Retina and Vitreous, Narayana Nethralaya, Bangalore, India
2Medical Retina and Vitreoretinal Surgery, University of Pittsburgh School of Medicine, Pittsburgh, USA

Tóm tắt

To describe the clinical and imaging features in a series of patients diagnosed with macular coloboma (MC) and intrachoroidal cavitation (ICC). Patients diagnosed with MC based on clinical examination between June 2017 and July 2021 were retrieved from the electronic medical record system and were included in the study. Colour fundus photographs, optical coherence tomography (OCT) and Multicolour® imaging scans of these patients were analysed. We identified 16 eyes of 11 patients with MC on fundus examination. Based on OCT imaging features, conforming variant of MC was seen in 9 (56%) eyes and non-conforming variant in 7 (44%) eyes. No eyes with MC in the study showed features of both conforming and non-conforming varieties simultaneously. In the non-conforming variety of MC with presence of intercalary membrane break, ICC was identified in 5 (71%) of these eyes. ICC in MC appeared as flat, dark greenish areas with or without an orange-coloured boundary abutting the margin of the coloboma on Multicolour® imaging. In 31% eyes, ICC was seen in non-conforming type of MC and was well-identified on Multicolour® imaging. It appears that presence of intercalary membrane break and detachment are prerequisites for developing ICC.

Tài liệu tham khảo

Coloboma of macula. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98945. Accessed 19 Dec 2021 Hou X, Guo Y, Liu J et al (2021) A systematic review of the clinical manifestations and diagnostic methods for macular coloboma. Curr Eye Res 46:913–918. https://doi.org/10.1080/02713683.2020.1853779 Oh JY, Yu YS, Hwang J-M, Park KH (2007) Optical coherence tomographic finding in a case of macular coloboma. Korean J Ophthalmol 21:175. https://doi.org/10.3341/kjo.2007.21.3.175 Panagiotidis D, Karagiannis D, Theodossiadis P et al (2010) Atypical macular coloboma in a patient with adult vitelliform dystrophy. Can J Ophthalmol 45:544–545. https://doi.org/10.3129/i09-277 El Bahloul M, Younes S, Zahir F et al (2019) La dystrophie maculaire de la Caroline du Nord : à propos d’un cas. J Fr Ophtalmol 42:e73–e77. https://doi.org/10.1016/j.jfo.2018.05.011 Han IC, Critser DB, Stone EM (2018) Swept-source OCT of a macular coloboma in NMNAT1-leber congenital amaurosis. Ophthalmol Retina 2:1040. https://doi.org/10.1016/j.oret.2018.07.009 Langwińska-Wośko E, Szulborski K, Broniek-Kowalik K (2010) Late onset cone dystrophy. Doc Ophthalmol 120:215–218. https://doi.org/10.1007/s10633-010-9214-5 Mathew DJ (2015) Bilateral macular colobomata: temporal dragging of optic disc. Indian J Ophthalmol 63:348–350. https://doi.org/10.4103/0301-4738.158090 Hayasaka Y, Hayasaka S (2004) Bilateral congenital macular coloboma in a boy with Down syndrome. Eur J Ophthalmol 14:565–567. https://doi.org/10.1177/112067210401400619 Plaza-Ramos P, Tabuenca-Del Barrio L, Zubicoa-Eneriz A, Goldaracena-Tanco B (2018) Michaelis-Manz syndrome: a case report. An Sist Sanit Navar 41:393–396. https://doi.org/10.23938/ASSN.0377 Loh RC, Tan DS (1970) An unusual case of progeria-like dwarfism with bilateral macular coloboma. Am J Ophthalmol 70:968–974. https://doi.org/10.1016/0002-9394(70)92476-1 Amouyal F, Courjaret J-C, Denis D, Matonti F (2014) Colobome maculaire de Sorsby: fond d’œil et OCT spectral-domain. J Fr Ophtalmol 37:754. https://doi.org/10.1016/j.jfo.2014.03.009 Khan AO, Patel N, Ghazi NG et al (2018) Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation. Ophthalmic Genet 39:577–583. https://doi.org/10.1080/13816810.2018.1498528 Wei Y-H, Yang C-M, Chen M-S et al (2009) Peripapillary intrachoroidal cavitation in high myopia: reappraisal. Eye 23:141–144. https://doi.org/10.1038/sj.eye.6702961 Venkatesh R, Jain K, Aseem A et al (2020) Intrachoroidal cavitation in myopic eyes. Int Ophthalmol 40:31–41. https://doi.org/10.1007/s10792-019-01146-0 Schoenberger SD, Agarwal A (2013) Intrachoroidal cavitation in North Carolina macular dystrophy. JAMA Ophthalmol 131:1073. https://doi.org/10.1001/jamaophthalmol.2013.1598 Markan A, Jain M, Singh R (2020) Secondary intrachoroidal cavitation in a case of iridofundal coloboma. Med Hypotheses 143:110085. https://doi.org/10.1016/j.mehy.2020.110085 Chung CY, Li SH, Li KKW (2017) Focal choroidal excavation—morphological features and clinical correlation. Eye 31:1373–1379. https://doi.org/10.1038/eye.2017.71 Mann IC (1927) On certain abnormal conditions of the macular region usually classed as colobomata. Br J Ophthalmol 11:99–116. https://doi.org/10.1136/bjo.11.3.99 Schubert HD (2005) Structural organization of choroidal colobomas of young and adult patients and mechanism of retinal detachment. Trans Am Ophthalmol Soc 103:457–472 Lingam G (2013) Pattern of blood vessels in eyes with coloboma. Indian J Ophthalmol 61:743. https://doi.org/10.4103/0301-4738.122910 Chen T-C, Yang C-H, Sun J-P et al (2015) Macular retinal detachment associated with intrachoroidal cavitation in myopic patients. Graefes Arch Clin Exp Ophthalmol 253:1437–1446. https://doi.org/10.1007/s00417-014-2829-6 Akimoto M, Akagi T, Okazaki K, Chihara E (2012) Recurrent macular detachment and retinoschisis associated with intrachoroidal cavitation in a normal eye. Case Rep Ophthalmol 3:169–174. https://doi.org/10.1159/000339292 Feng HL, Sharma S, Stinnett S et al (2019) Identification of posterior segment pathology with en face retinal imaging using multicolor confocal scanning laser ophthalmoscopy. Retina (Philadelphia, Pa) 39:972–979. https://doi.org/10.1097/IAE.0000000000002111